A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
نویسندگان
چکیده
منابع مشابه
Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.
In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome d...
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ژورنال
عنوان ژورنال: Advanced Biomedical Research
سال: 2018
ISSN: 2277-9175
DOI: 10.4103/abr.abr_143_17