Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
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To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby.
The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done.
All four mutation proven patients were females (2 adults and 2 children). One of the adult female subjects were mildly affected, though she had a history of having a severely affected female child who expired on day six. Among the 2 affected children, one of them had an unaffected mother and the other had an affected mother.
FDH has a wide clinical spectrum from very subtle findings to severe manifestations. The lethality of the condition in males and the disfigurement and multisystem involvement in females highlights the importance of confirmation of diagnosis by molecular analysis so that the family can be offered prenatal diagnosis in subsequent pregnancy.
KeywordsGoltz Focal dermal hypoplasia Aplasia cutis congenita Fat herniation PORCN
DY prepared the manuscript and did detailed literature search. UMB and KK did the molecular studies and interpretation. MN did literature search and had helped in manuscript preparation. SN had conceived the idea of drafting this paper and has done the final drafting and will act as the guarantor of the manuscript.
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Conflict of Interest
- 15.Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. New York/London: Oxford University Press; 2001. p. 571–6.Google Scholar