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References

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Abstract

Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve.

PMID:
 
24214728
 
[PubMed - in process]


Am J Med Genet A. 2013 Jan;161A(1):225-7. doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13.

Weaver syndrome and defective cortical development: a rare association.


PMID:
 
23239504
 
[PubMed - indexed for MEDLINE]

Bol Asoc Med P R. 2012 Jan-Mar;104(1):43-5.

A patient with the Weaver syndrome in Puerto Rico: a case report.

Abstract

We report a 4 year-old boy with clinical features consistent with the Weaver syndrome. In addition to the typical findings, our patient had tarsal epicanthus, intermittent exotropia, hyperopia, and astigmatism. The deletion of the subtelomeric region of 18q has not been previously described in patients with the syndrome. Comparing clinical findings between patients with the de Grouchy and the Weaver syndrome suggest that both entities may be a spectrum of the same disease.

PMID:
 
22788078
 
[PubMed - indexed for MEDLINE]


Oncotarget. 2011 Dec;2(12):1127-33.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Abstract

The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth.

PMID:
 
22190405
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC3282071
 

Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15.

Mutations in EZH2 cause Weaver syndrome.

Abstract

We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the enhancer of zeste homolog 2 (EZH2). Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome.

PMID:
 
22177091
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC3257956
 

Hippokratia. 2010 Jul;14(3):212-4.

Weaver syndrome associated with bilateral congenital hip and unilateral subtalar dislocation.

Abstract

Background: Weaver syndrome is a congenital paediatric syndrome characterized by mental, respiratory and musculoskeletal manifestations. The coexisting deformities of the skull, the face, fingers and toes are typical. We report a case of a girl with Weaver syndrome associated with rare bilateral congenital dislocation of the hips associated with congenital hypoplastic talus and subtalar dislocation of her ankle joint. Case Report: A 3-year old girl was admitted in our department with typical manifestations of Weaver syndrome, associated with congenital dislocation of bilateral hips, hypoplastic talus and subtalar dislocation of her right ankle. She was in pain while standing upright and incapable of independent walking. Both hips were treated operatively with open reduction and bilateral iliac osteotomy. Two years afterwards she had an open reduction of her talus and extraarticular arthrodesis of her subtalar joint in her right ankle. Six years postoperatively after the hip operations and four years after the ankle operation the girl is ambulant with a painless independent and unaided walking with a mild limp and full range of movements in all the operated joints. Conclusions: We suggest that children with Weaver syndrome and disabling musculosceletal deformities, particularly affecting their ability to stand up and walk should be treated early, before bone maturity, in order to achieve the best potential musculoskeletal as well as developmental outcome.

PMID:
 
20981173
 
[PubMed] 
PMCID:
 
PMC2943362
 

Am J Med Genet A. 2010 Feb;152A(2):383-6. doi: 10.1002/ajmg.a.33244.

Acute lymphoblastic leukemia in Weaver syndrome.

Abstract

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination and molecular testing. Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown. Patients with overgrowth syndromes have an increased frequency of tumors; the risk in Sotos syndrome patients has been estimated to be about 2-3%, with leukemia and lymphoma accounting for 44% of the malignancies. We report on a 4(1/2)-year-old girl with typical Weaver syndrome who developed acute lymphoblastic leukemia, an association not previously reported, and review the reported cases of Weaver syndrome patients who developed malignancies. Malignancy in Weaver syndrome has been reported previously in six patients. While searching the literature for all reported cases with Weaver syndrome and counting the cases with malignancy, we found that the frequency of tumors or hematologic malignancy was 10.9%. This is likely to be an overestimate, biased by failure to report cases without tumors and by over-reporting cases with this rare association. While the presence of acute lymphoblastic leukemia in our patient might be incidental, we cannot exclude a possible causative association between Weaver syndrome and hematologic malignancy.

PMID:
 
20101679
 
[PubMed - indexed for MEDLINE]

Indian J Hum Genet. 2009 Jan;15(1):36-7. doi: 10.4103/0971-6866.50869.

Weaver syndrome: A report of a rare genetic syndrome.

PMID:
 
20407649
 
[PubMed] 
PMCID:
 
PMC2846569
 

J Pediatr Hematol Oncol. 2008 Oct;30(10):758-60. doi: 10.1097/MPH.0b013e3181758974.

Weaver syndrome and neuroblastoma.

Abstract

Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia. Two previous cases of neuroblastoma have been reported in children with Weaver syndrome. We present a third description of a patient with Weaver syndrome and neuroblastoma. In a child with phenotypic characteristics consistent with Weaver syndrome, evaluation for neuroblastoma should be considered.

PMID:
 
19011474
 
[PubMed - indexed for MEDLINE]

Int J Oral Maxillofac Surg. 2008 Oct;37(10):961-5. doi: 10.1016/j.ijom.2008.05.008. Epub 2008 Jul 2.

Treatment of macroglossia in a child with Weaver syndrome.

Abstract

Weaver syndrome is a rare disorder, characterized by accelerated growth, advanced osseous maturation and distinct craniofacial features. Macroglossia and hypothyroidism are seldom mentioned in the literature as clinical findings associated with the syndrome. This paper describes a patient with Weaver syndrome, referred for consultation and treatment of macroglossia, who also suffered from congenital hypothyroidism. This is the first reported case of Weaver syndrome treated with partial glossectomy (tongue reduction). The paper describes the clinical findings of the syndrome, emphasizing the difficulty in identifying it, the indications for partial glossectomy and the authors' recommended operative technique.

PMID:
 
18595662
 
[PubMed - indexed for MEDLINE]

Paediatr Anaesth. 2005 Oct;15(10):893-6.

The upper airway in Weaver syndrome.

Abstract

Weaver syndrome is a rare disorder of unknown etiology characterized by skeletal overgrowth, distinctive craniofacial and digital abnormalities, and advanced bone age. The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and an anterior and cephalad position of the larynx. In this report, the authors describe their experience with two children diagnosed with Weaver syndrome who presented for dental surgery. Contrary to previous reports, tracheal intubation was accomplished with relative ease, suggesting that difficulty in intubation in Weaver syndrome may be age-related, diminishing with advancing age and growth of the mandible, as has been reported for other micrognathic syndromes such as Pierre Robin sequence.

PMID:
 
16176320
 
[PubMed - indexed for MEDLINE]

Clin Pediatr Endocrinol. 2004;13(1):17-23. doi: 10.1297/cpe.13.17. Epub 2004 Jul 7.

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

Abstract

We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years. She also had submucosal soft cleft palate and difficulty in swallowing and breathing in early infancy. When she was 5 years and 7 months old, her height and weight were 133.3 cm (+ 5.5 SD) and 32.0 kg (+ 5.1 SD), respectively. We could not detect any endocrinological abnormalities for the cause of overgrowth. According to clinical features, Weaver syndrome was suspected and genetical analysis was performed. Fluorescence in situ hybridization (FISH) and direct sequencing analysis showed neither deletion nor point mutation of the nuclear receptor SET-domain-containing protein 1 (NSD1) gene on 5q35, which is responsible for Sotos syndrome. Therefore, we made a diagnosis of Weaver syndrome for this patient and discussed the differential diagnosis in terms of overgrowth syndrome.

PMID:
 
24790293
 
[PubMed] 
PMCID:
 
PMC4004909
 

Clin Dysmorphol. 2002 Jan;11(1):49-52.

The difficulty of height prediction in Weaver syndrome.

Abstract

Accelerated growth and advanced bone age are consistent findings in Weaver-Smith syndrome (WSS). According to the rather scant reports in the literature, persons afflicted with WSS appear to achieve supranormal heights despite a significant bone age advancement in their growth period. The literature does not state clearly whether there is a discrepancy between bone age advancement and the time of onset of puberty in WSS. We report a girl with Weaver syndrome whose final height predictions were within normal limits according to the standard prediction models, who had to be eventually treated with high doses of estrogen in order to keep her final height within reasonable limits. We conclude that the pattern of growth and maturation in children with WSS may form an exception to the general rule that tall children with an advanced bone age mature early and thus attain a normal final height. A careful evaluation of growth data of other children with WSS is necessary to clarify this issue.

PMID:
 
11826875
 
[PubMed - indexed for MEDLINE]

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):806-7.

[Weaver syndrome(Weaver-Smith syndrome)].

[Article in Japanese]


PMID:
 
11529033
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 2001 Mar 15;99(3):252-5.

Weaver syndrome with neuroblastoma and cardiovascular anomalies.

Abstract

We report on an infant with Weaver syndrome, neoplasia and cardiovascular anomalies. Stage 4S neuroblastoma underwent spontaneous resolution. Three neoplasms have been reported in Weaver syndrome: another stage 4S neuroblastoma [Muhonen and Menezes, 1990: J Pediatr 116:596-599], an ovarian endodermal sinus tumor [Derry et al., 1999: J Med Genet 36:725-728], and a sacrococcygeal teratoma [Kelly et al., 2000: Am J Med Genet 95:492-495]. No case was associated with cardiovascular anomalies. Our patient had VSD and PDA, and although several other patients with Weaver syndrome have had cardiovascular anomalies, they were shown not to have neoplasia.

PMID:
 
11241499
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 2000 Dec 18;95(5):492-5.

Cervical spine anomalies and tumors in Weaver syndrome.

Abstract

Weaver syndrome is an autosomal dominant disorder comprising accelerated growth rate and rapidly advancing skeletal maturation. Previous reports suggest that the phenotype in adults may be sufficiently subtle to make diagnosis difficult. Half brothers with classical childhood findings of Weaver syndrome and their father with minimal clinical findings showed cervical spine anomalies that likely represent a consistent radiographic finding in this disorder. One of the children represents the third occurrence of neoplasia in Weaver syndrome.

PMID:
 
11146472
 
[PubMed - indexed for MEDLINE]

J Pediatr Endocrinol Metab. 2000 Sep-Oct;13(8):1147-53.

Excessive growth in a girl with Weaver syndrome.

Abstract

A 24 month-old female with Weaver syndrome who has the most severe overgrowth among reported cases is presented. Prenatal history was remarkable for maternal hydantoin use throughout pregnancy. In addition to all major features of the syndrome, she displayed some novel features, including patent ductus arteriosus, atrial septal defect and diffuse thinning of the corpus callosum. Initially, carpal bone age was more advanced compared to phalangeal bone age, as expected in Weaver syndrome. However, phalangeal bone age caught up with carpal bone age during the follow-up period, suggesting that dysharmonic bone age advancement is an early feature of Weaver syndrome. The apparent male predominance in Weaver syndrome is generally ascribed to milder expression of the syndrome in females. The present patient, showing the most severe expression of the syndrome, refutes the notion that females with Weaver syndrome may have a milder form of the syndrome.

PMID:
 
11085195
 
[PubMed - indexed for MEDLINE]

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):258-9.

[Weaver syndrome].

[Article in Japanese]

PMID:
 
11057220
 
[PubMed - indexed for MEDLINE]

J Med Genet. 1999 Sep;36(9):725-8.

A probable case of familial Weaver syndrome associated with neoplasia.

PMID:
 
10507738
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC1734420
 


Am J Med Genet. 1999 Oct 8;86(4):395-7.

Pachygyria in Weaver syndrome.

PMID:
 
10494098
 
[PubMed - indexed for MEDLINE]

Pediatr Cardiol. 1999 Sep-Oct;20(5):375-6.

A case with Weaver syndrome operated for congenital cardiac defect.

Abstract

An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.

PMID:
 
10441697
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1998 Oct 2;79(4):305-10.

Weaver syndrome: autosomal dominant inheritance of the disorder.

Abstract

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affected with this condition, the syndrome generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. We report here on a family in which the propositus and his sister were born with the facial phenotype, club feet, and macrosomia characteristic of WS. Their father had macrosomia and macrocephaly as an adult, and childhood photos show clearly that he has WS. Two sisters of the propositus have had normal growth and development. The syndrome in this family appears to be inherited in an autosomal dominant fashion.

PMID:
 
9781912
 
[PubMed - indexed for MEDLINE]

J Med Genet. 1998 Apr;35(4):323-7.

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

Abstract

The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1 gene. The other symptoms in the two cases were similar to the features reported in Weaver syndrome. Although the combination of NF1 and an overgrowth syndrome resembling Weaver syndrome in this family may be fortuitous, we favour the hypothesis that the deletion of the entire gene has caused this combined phenotype. Possible pathogenetic mechanisms are discussed. The observation suggests a relation between NF1 with an extraordinarily large gene deletion and a Weaver(-like) syndrome. This warrants investigation for deletions in the 17q11.2 region in Weaver(-like) syndrome patients.

PMID:
 
9598729
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC1051283
 

J Med Genet. 1997 May;34(5):418-9.

Autosomal dominant inheritance of Weaver syndrome.

Abstract

Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

PMID:
 
9152841
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC1050951
 

Invest Clin. 1997 Mar;38(1):9-24.

[Weaver syndrome. 1st case reported in Venezuela].

[Article in Spanish]

Abstract

A 2 years and 9 months old female patient, with the diagnosis of Weaver syndrome is reported. The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hypertelorism, micrognathia, large ears), bilateral widening of the distal femoral metaphysis, bilateral tibia vara, prominent fetal fingerpads, clinodactyly, development delay, low pitched and hoarse cry, nonspecific cortical atrophy, dilation of the ventricles and vermix hypoplasia. The differential diagnosis with other overgrowth syndromes is discussed. The possibility of uniparental disomy and genetic imprinting as the basic genetic defect in the Weaver syndrome is suggested. The patient reported here appears to be the first case in the Venezuelan literature.

PMID:
 
9235073
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1996 Oct 28;65(3):249-51.

Propositus with Weaver syndrome and his mildly-affected mother: implication of nontraditional inheritance?

PMID:
 
9240753
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1996 May 17;63(2):378-81.

Novel findings in a patient with Weaver or a Weaver-like syndrome.

Abstract

We report on a young male patient with an overgrowth syndrome, who had normal birth weight. He had a number of manifestations typical of the Weaver syndrome (WS), such as advanced bone age, peculiar craniofacial appearance, and camptodactyly. He also showed severe mental and speech retardation and demineralisation of the bones of the hands and feet. The latter can be considered as unreported manifestations of WS, or the patient could represent an example of a new WS-like syndrome.

PMID:
 
8725789
 
[PubMed - indexed for MEDLINE]

Clin Genet. 1993 Dec;44(6):338-40.

Twins and their mildly affected mother with Weaver syndrome.

Abstract

A pair of twins, a brother and sister, with the complete form of Weaver syndrome (overgrowth, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance. They all have plantar and palmar hyperhydrosis and twins also have nail dysplasia, symptoms which have not yet been described in this syndrome.

PMID:
 
8131308
 
[PubMed - indexed for MEDLINE]

J Med Genet. 1992 May;29(5):332-7.

Weaver syndrome.


PMID:
 
1583661
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC1015954
 

Pediatrics. 1991 Dec;88(6):1106-11.

Weaver syndrome: a case without early overgrowth and review of the literature.

Abstract

A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until after adequate caloric intake was achieved by feeding through a gastric feeding tube. Her inadequate nutrition was a result of feeding difficulties during infancy. In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay. She died at 16 months of sepsis, congestive heart failure, and respiratory arrest. The autopsy revealed marked atrophy of the brain and cardiac ventricular hypertrophy. Most of the brain changes were thought to be from hypoxia.

PMID:
 
1956726
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1991 Nov 1;41(2):221-4.

Weaver syndrome in two Japanese children.

Abstract

We report on 2 Japanese patients (a 3-year-old girl and an 20-month-old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal. The nosology of the Weaver and Simpson-Golabi-Behmel syndromes is discussed.

PMID:
 
1785638
 
[PubMed - indexed for MEDLINE]

Jinrui Idengaku Zasshi. 1990 Sep;35(3):257-62.

A Japanese male infant with the Weaver syndrome.

Abstract

A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions.

PMID:
 
2266602
 
[PubMed - indexed for MEDLINE]

Ann Pediatr (Paris). 1990 May;37(5):327-30.

[Weaver's syndrome. Apropos of a new case].

[Article in French]

Abstract

We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.

PMID:
 
2369050
 
[PubMed - indexed for MEDLINE]

J Pediatr. 1990 Apr;116(4):596-9.

Weaver syndrome and instability of the upper cervical spine.

PMID:
 
2319408
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1989 Aug;33(4):479-82.

A new autosomal recessive disorder resembling Weaver syndrome.

Abstract

Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.

PMID:
 
2596508
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1989 May;33(1):127-9.

Weaver syndrome: the changing phenotype in an adult.

Abstract

We report on a 25-year-old woman who was diagnosed with Weaver syndrome after reevaluation because of the family's concern regarding recurrence risk for mental retardation in offspring of the woman's brother. The diagnosis was suggested on the basis of postnatal growth excess, camptodactyly, and developmental delay, but with a somewhat atypical facial appearance. When childhood photographs were reviewed, her facial characteristics were more consistent with those of Weaver syndrome in early childhood, but became less obvious with age. This is the second adult reported with Weaver syndrome and provides documentation of the adult phenotype. The diagnosis may be more difficult to make in adolescents and adults if one uses criteria developed for facial manifestations in young children.

PMID:
 
2750780
 
[PubMed - indexed for MEDLINE]

Acta Paediatr Scand. 1988 Nov;77(6):930-2.

Retarded skeletal maturation in Weaver syndrome.

Abstract

A male infant with primordial overgrowth and morphological characteristics of Weaver syndrome is presented. Unexpectedly his osseous maturation was retarded.

PMID:
 
3207030
 
[PubMed - indexed for MEDLINE]

J Med Genet. 1987 Apr;24(4):232-4.

A girl with the Weaver syndrome.

Abstract

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

PMID:
 
3585940
 
[PubMed - indexed for MEDLINE] 
PMCID:
 
PMC1050003
 

J Pediatr. 1986 Feb;108(2):228-35.

Further delineation of Weaver syndrome.

Abstract

Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.

PMID:
 
2418189
 
[PubMed - indexed for MEDLINE]

Am J Med Genet. 1985 Aug;21(4):737-9.

Weaver syndrome with pes cavus.

Abstract

Few cases have been described of the Weaver syndrome, an overgrowth syndrome with advanced skeletal age. Here we report bilateral pes cavus in an affected girl.

PMID:
 
4025398
 
[PubMed - indexed for MEDLINE]

S Afr Med J. 1985 Apr 20;67(16):646-8.

Weaver's syndrome--primordial excessive growth velocity. A case report.

Abstract

We report on a black child with the Weaver syndrome of primordial overgrowth, the seventh and largest case thereof yet recorded. His birth weight was 10 200 g and he has continued to grow at an excessive velocity. At the age of 14 months his weight was 30 kg, his height 105 cm and his radiological bone age between 6 and 7 years. Other features which conform to previous reports are a peculiar face with a long philtrum, protuberant lower lip, relative micrognathia, large dysplastic ears, excessive loose skin folds around the scalp, neck and trunk, large hands with camptodactyly, varus deformities of the feet and a hoarse, low-pitched voice. A significant feature in this patient is lumbar kyphosis due to hypoplasia of the second and third lumbar vertebrae. Biochemical and endocrinological tests did not reveal an abnormality.

PMID:
 
3983749
 
[PubMed - indexed for MEDLINE]

Prog Clin Biol Res. 1985;200:123-44.

Weaver syndrome: expanded natural history.

PMID:
 
4080734
 
[PubMed - indexed for MEDLINE]

An Esp Pediatr. 1984 Oct 31;21(6):626-8.

[Weaver syndrome. Apropos of a case].

[Article in Spanish]

PMID:
 
6524773
 
[PubMed - indexed for MEDLINE]

Eur J Pediatr. 1983 Oct;141(1):58-9.

The Weaver syndrome in a girl.

Abstract

This paper reports the first female case of the Weaver syndrome. The prominent clinical features are gigantism, macrocephaly, and the characteristic facial dysmorphism. Hypertonia and bone maturation acceleration are somewhat less pronounced than in the formerly published cases of male patients. The etiology of the syndrome remains unclear, but if genetic, X-linked recessive inheritance can be excluded.

PMID:
 
6641769
 
[PubMed - indexed for MEDLINE]

J Pediatr. 1983 Apr;102(4):595-7.

Siblings with Weaver syndrome.

PMID:
 
6834195
 
[PubMed - indexed for MEDLINE]

Eur J Pediatr. 1981 Nov;137(3):277-82.

The Weaver syndrome: a rare type of primordial overgrowth.

Abstract

A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature -referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.

PMID:
 
7318839
 
[PubMed - indexed for MEDLINE]



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