BRACHYDACTYLY WITH ABSENCE OF MIDDLE PHALANGES AND HYPOPLASTIC NAILS

Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.

Fetal phenytoin exposure , hypoplastic nails , and itteriness

In a prospective study infants born to mothers with epilepsy (n=61) were found to have an unexpectedly high incidence of congenital anomalies (26/61, 43%) and neonatal conditions (26/61, 43%) compared with controls (0/62, and 6/62, 10%, respectively). There were two neonatal deaths in the study group but none among the controls. Hypoplasia of the finger or toenails was a common congenital anoma...

Fetal phenytoin exposure, hypoplastic nails, and jitteriness.

In a prospective study infants born to mothers with epilepsy (n = 61) were found to have an unexpectedly high incidence of congenital anomalies (26/61, 43%) and neonatal conditions (26/61, 43%) compared with controls (0/62, and 6/62, 10%, respectively). There were two neonatal deaths in the study group but none among the controls. Hypoplasia of the finger or toenails was a common congenital ano...

Dominant anonychia and onychodystrophy.

Case 1. The grandfather, II.3, born in 1889, suffers from lymphatic leukaemia and diabetes. As can be seen in Fig. 2a, the hands show complete anonychia of the thumb, the forefinger, and the middle finger, with nail-bed vestiges present as small ridges on the outer finger edges. The fourth and fifth fingers show the absence of nails in the central part, and two small atrophied nail lamellae on ...