Otopalatodigital dysplasia type II: Uncommon skeletal disorder seen in Calabar, Nigeria
Otopalatodigital (OPD) dysplasia type 2 is an X-linked rare congenital disorder causing severe skeletal and extraskeletal manifestations. This results from the gain of function mutations in the filamin A (FLNA) gene which is protein actin responsible for modulation and reorganization of the actin cy...
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| Published in: | Journal of clinical neonatology Vol. 9; no. 3; pp. 214 - 217 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Wolters Kluwer India Pvt. Ltd
01-07-2020
Medknow Publications and Media Pvt. Ltd |
| Subjects: | |
| Online Access: | Get full text |
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| Summary: | Otopalatodigital (OPD) dysplasia type 2 is an X-linked rare congenital disorder causing severe skeletal and extraskeletal manifestations. This results from the gain of function mutations in the filamin A (FLNA) gene which is protein actin responsible for modulation and reorganization of the actin cytoskeleton. The baby's mother had polyhydramnios, delivered at 39 weeks, with low Apgar scores and weight 1.5 kg. Examination revealed aplasia of the humerus, ulnar, fibula, hypoplasia of the digits, hanging malformed thumb, thoracolumbar lordosis, short thoracic vertebra, and incomplete ribs with brittle bones. Extraskeletal anomalies were cleft lip and palate, hydrocephalus, and omphalocele. The diagnosis of OPD type 2 with intra-uterine growth retardation and severe birth asphyxia was made, the baby died 7 min after birth. The autopsy confirmed highlighted findings without abnormalities of the lungs, trachea, kidneys, and heart. We report this case to highlight the fact that the presence of polyhydramnios should raise a high index of suspicion for further diagnostic evaluation to exclude the otopalatoskeletal syndrome. |
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| ISSN: | 2249-4847 |
| DOI: | 10.4103/jcn.JCN_110_19 |