Abstract
We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.
Original language | English |
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Pages (from-to) | 733-735 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 42 |
Issue number | 5 |
Publication status | Published - 1992 |
Keywords
- ankyloblepharon
- autosomal recessive inheritance
- facial clefts
- popliteal pterygium syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology