Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies—A case report
Abdikarin Ahmed Mohamed,
Hindeya Hailu Hagos,
Dawit Seyoum
et al.
Abstract:Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities. The primary cause of this syndrome is the mutation of the PORCN gene, which is associated with the X chromosome. A newborn baby was admitted to the neonatal intensive care unit due to skeletal and skin abnormalities. The major findings in this patient included anophthalmia, microform cleft lip, subcutaneous fat herniation, and split foot. An abdomin… Show more
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