In 1995, Tsukahara et al. reported on a 9-yearold boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. We now describe an 8-year-old Israeli Arab girl who appears to have the same condition. Her parents were first cousins,
Mental retardation, ?coarse? face, and hyperbreathing: Confirmation of the Pitt-Hopkins syndrome
โ Scribed by Van Balkom, Inge D.C.; Quartel, Sytze; Hennekam, Raoul C.M.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 23 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980123)75:3<273::aid-ajmg9>3.0.co;2-r
No coin nor oath required. For personal study only.
โฆ Synopsis
We present a patient with distinctive clinical manifestations resembling those first described by Pitt and Hopkins in 1978 [
๐ SIMILAR VOLUMES
We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic synd
propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.
We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in