更新于:2024-05-01

Progeroid Syndrome, Congenital, Petty Type

先天性早衰综合症petty型

基本信息

别名
CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE、Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies、Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
+ [20]
简介
A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

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