| Contributed by: Sharon Daphne Menezes, Amita Moirangthem | ||
| Email: amita.m@manipal.edu | ||
| This 3-year-old girl presented with bilateral congenital talipes equino varus, multiple joint contractures, distinctive facial appearance and normal intellect. Her father also had similar features. Identify the condition. | ||
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| Answer to PhotoQuiz 38 |
| Focal Dermal Hypoplasia (Goltz syndrome) (OMIM # 305600) |
| Focal dermal hypoplasia, also known as Goltz syndrome, is characterized by atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. It is inherited in an X-linked dominant manner and is seen only in females, as it causes in utero lethality in male fetuses. Ocular, digital and oral anomalies can also be associated with this condition. It is caused by heterozygous mutation in the PORCN gene. |
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