Abstract
A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.
| Original language | English |
|---|---|
| Journal | American Journal of Medical Genetics |
| Volume | 63 |
| Issue number | 1 |
| Pages (from-to) | 314-317 |
| Number of pages | 4 |
| ISSN | 0148-7299 |
| DOIs | |
| Publication status | Published - 03.05.1996 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Research Areas and Centers
- Research Area: Medical Genetics
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