Dhanya Yesodharan1, Uta Meyer Zum Büschenfelde2, Kerstin Kutsche2, K Mohandas Nair3, Sheela Nampoothiri4. 1. Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India. 2. Institute of Human Genetics, University Medical Center, Hamburg-Eppendorf, Hamburg, Germany. 3. Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India. 4. Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Kochi, Kerala, 682041, India. sheeladr@gmail.com.
Abstract
OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: S M Maas; M P Lombardi; A J van Essen; E L Wakeling; B Castle; I K Temple; V K A Kumar; K Writzl; Raoul C M Hennekam Journal: J Med Genet Date: 2009-07-07 Impact factor: 6.318
Authors: Kathleen K M Deidrick; Martha Early; Jordan Constance; Margot Stein; Timothy J Fete Journal: Am J Med Genet C Semin Med Genet Date: 2016-01-28 Impact factor: 3.908