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Not a new Seckel-like syndrome but ear-patella-short stature syndrome

โœ 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.

โœฆ 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,


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