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Research Project: Pediatric Clinical Nutrition

Location: Children's Nutrition Research Center

Title: Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)

Author
item Motil, Kathleen - Children'S Nutrition Research Center (CNRC)
item Fete, Mary - National Foundation For Ectodermal Dysplasias
item Fete, Timothy - University Of Missouri

Submitted to: American Journal of Medical Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 1/10/2016
Publication Date: 3/1/2016
Citation: Motil, K.J., Fete, M., Fete, T.J. 2016. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). American Journal of Medical Genetics. 172C(1):29-33.

Interpretive Summary: Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is characterized by abnormalities in the formation of skin, hair, teeth, eyes, arms and legs. The possibility of abnormal growth patterns and the presence of nutritional and gastrointestinal problems in children who have this rare genetic disorder are unknown. In this study we found that all measures of growth including head circumference, height, weight, and body mass index in children with FDH were lower than the same measures in healthy unaffected children. In addition, 75% of these children had one or more nutritional or gastrointestinal problems including short stature, underweight, chewing difficulties, acid reflux, delayed stomach emptying, and constipation. These observations are important because they provide new clinical information about growth and nutritional and gastrointestinal problems in children and underscore the importance of early intervention.

Technical Abstract: Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n'='19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P'<'0.06) and weight (P'<'0.001) z-scores of the participants were lower than the reference population. The mean head circumference (P'<'0.001), height (length) (P'<'0.001), weight (P'<'0.01), and BMI (P'<'0.05) for age z-scores of the participants were lower than the reference population. The height-for-age and weight-for-age z-scores of the participants did not differ significantly between birth and current measurements. Three-fourths of the group reported having one or more nutritional or gastrointestinal problems including short stature (65%), underweight (77%), oral motor dysfunction (41%), gastroesophageal reflux (24%), gastroparesis (35%), and constipation (35%). These observations provide novel clinical information about growth, body composition, and nutritional and gastrointestinal aspects of children and adults with FDH and underscore the importance of careful observation and early clinical intervention in the care of individuals affected with this disorder.