Finlay-Marks syndrome: Report of two siblings and review of literature

Naik, Prashant and Kini, Pushpa and Chopra, Deepti and Gupta, Yogesh Kumar (2012) Finlay-Marks syndrome: Report of two siblings and review of literature. American Journal of Medical Genetics - Part - A, 158A. pp. 1696-1701.

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Pinlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance.

Item Type: Article
Uncontrolled Keywords: Amastia; abnormal ears; aplasia cutis congenita; ectodermal dysplasia; renal agenesis.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 21 Jul 2015 05:07
Last Modified: 21 Jul 2015 05:07

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