The Coffin-Siris syndrome.

نویسندگان

  • Q H Qazi
  • L S Heckman
  • D Markouizos
  • R S Verma
چکیده

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

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منابع مشابه

Successful difficult airway management of a child with Coffin‐siris syndrome

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Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

INTRODUCTION We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth finger...

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Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who ha...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 27 5  شماره 

صفحات  -

تاریخ انتشار 1990