The Indian Journal of Pediatrics

, Volume 85, Issue 12, pp 1067–1072 | Cite as

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum

  • Dhanya Yesodharan
  • Uta Meyer zum Büschenfelde
  • Kerstin Kutsche
  • K. Mohandas Nair
  • Sheela NampoothiriEmail author
Original Article



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.


Goltz Focal dermal hypoplasia Aplasia cutis congenita Fat herniation PORCN 


Author’s Contributions

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.

Compliance with Ethical Standards

Conflict of Interest



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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of Pediatric GeneticsAmrita Institute of Medical Sciences & Research CenterKochiIndia
  2. 2.Institute of Human GeneticsUniversity Medical CenterHamburgGermany
  3. 3.Department of PediatricsGovernment Medical CollegeKozhikodeIndia

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