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Am J Med Genet A. 2019 Apr;179(4):628-633. doi: 10.1002/ajmg.a.61051. Epub 2019 Jan 28.

Growth failure in focal dermal hypoplasia.

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Division of Pediatric Endocrinology, School of Medicine, University of Colorado, Aurora, Colorado.
Department of Pediatrics, School of Medicine and Biostatistics and Informatics, School of Public Health, University of Colorado, Aurora, Colorado.
National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois.
Department of Child Health, University of Missouri-Columbia School of Medicine, Columbia, Missouri.
USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas.


Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes for short stature by assessing growth charts, determining bone ages and auxologic measurements, examining laboratory data for the common causes of growth failure, assessing dietary intake, and performing a growth hormone stimulation test. Sixteen patients with FDH between the ages of 3 and 18 years of age consented to the study. While 11 out of 16 patients had short stature based on height less than 2 standard deviations below mid-parental target height percentile and bone age not suggestive of likely catch-up growth, only four had a BMI less than the 5th percentile for age. Laboratory studies did not support a gastrointestinal, allergy or autoimmune cause of growth failure. Three patients had results suggestive of possible growth hormone deficiency. Although short stature is a common feature in FDH, our data suggests that severe undernutrition is not common in this group and that there may be underlying treatable causes for this short stature in some patients.


Goltz-Gorlin syndrome; focal dermal hypoplasia; growth hormone deficiency; pituitary deficiency; short stature

[Available on 2020-04-01]

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