Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.

Garavelli, L., Simonte, G., Rosato, S., Wischmeijer, A., Albertini, E., Guareschi, E., Longo, C., Albertini, G., Gelmini, C., Greco, C., Errico, S., Pavanello, M., Happle, R., Unger, S., Superti Furga, A., Grzeschik, K., Savino, G., Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2013; 161A (7): 1750-1754. [doi:10.1002/ajmg.a.35964] [http://hdl.handle.net/10807/50508]

Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly

Savino, Gustavo
2013

Abstract

Focal dermal hypoplasia (FDH; Goltz–Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.
2013
Inglese
Garavelli, L., Simonte, G., Rosato, S., Wischmeijer, A., Albertini, E., Guareschi, E., Longo, C., Albertini, G., Gelmini, C., Greco, C., Errico, S., Pavanello, M., Happle, R., Unger, S., Superti Furga, A., Grzeschik, K., Savino, G., Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2013; 161A (7): 1750-1754. [doi:10.1002/ajmg.a.35964] [http://hdl.handle.net/10807/50508]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/50508
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