Pfeiffer's type of acrocephalosyndactyly in two families.
نویسندگان
چکیده
FIG 1 Pedigrees offamilies WandK clinodactyly. Syndactyly was not persent on the hands or feet. The face (fig 4a) and the neurocranium were without any apparent abnormalities, although complete disappearance of the sagittal suture was reported at the first x-ray examination performed at the age of 5. Impressions of gyri were more apparent. Case 2 (112) was the mother of the proband aged 35 years. She had had spontaneous abortions of her 2nd, 3rd, and 4th pregnancies, the causes ofwhich were unknown. The proximal phalanges of the thumbs and the middle phalanges of the fingers were short (fig 2b). Similar findings, but with symphalangism, were present on the toes (fig 3b). The head was normal (fig 4b). Case 3 (I3) was the father of the proband's mother, aged 63 years. He refused x-ray examination, but the physical appearance of his hands and feet
منابع مشابه
Pitfalls of genetic counselling in Pfeiffer's syndrome.
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 4 شماره
صفحات -
تاریخ انتشار 1982