Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. We describe cardiomegaly, cleft palate, and cryptorchidism not reported previously.
- Acrocephalopolydactylous dysplasia
- Elejalde syndrome (ES)
- Multiple congenital anomalies
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine