The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal developme
Not a new Seckel-like syndrome but ear-patella-short stature syndrome
โ Scribed by Teebi, Ahmad S.; Gorlin, Robert J.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 2 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970627)70:4<454::aid-ajmg23>3.0.co;2-f
No coin nor oath required. For personal study only.
โฆ Synopsis
We read with interest the article of describing presumably a new Seckel-like syndrome of primordial dwarfism in two unrelated children. The syndrome comprises IUGR with post-natal growth retardation, microcephaly, retarded bone age, prominent eyes, microtia and ear malformations, small mouth with full lips, micrognathia, cleft soft palate, clinodactyly of 5th finger, clitoromegaly, mild to moderate mental retardation, and other anomalies. Developmental assessment was not formally done in one of the girls (2 years), and in the other, the last assessment was at age 34 months.
We were impressed with the similarity between their cases and those we have described previously as the ear-patella-short stature syndrome (Meier-Gorlin syndrome) [reviewed recently by . Based on eight reported cases this syndrome comprises IUGR and post-natal growth retardation, microcephaly, retarded bone age, microtia and malformed ears, small mouth and full lips, micrognathia, clinodactyly of the 5th finger, and absent or hypoplastic patellae. Intelligence was variable. IQ was less than 60 in one of the two cases reported by and was described as low normal in the case reported by . It was normal in the cases reported by and . No information in this regard is available about the Meier et al. [1959] case and one of the cases reported by Hurst et al. [1988]. Clitoromegaly was found in two of the four reported cases, while in the other two, information was not available. Prominent eyes were noted in the Boles et al. [1996] cases. Absent or hypoplastic patella, a cardinal finding in ear-patella-short stature syndrome,
๐ SIMILAR VOLUMES
We describe a previously unrecognized syndrome in two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation.
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