Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly
✍ Scribed by Erdoğan, Bülent; Aköz, Tayfun; Görgü, Metin; Kutlay, Rohat; Dağ, Ferhan
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 324 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We present a possibly new multiple congenital anomaly syndrome of craniosynostosis, Poland anomaly, cranio-fronto-nasal "dysplasia," and genital and breast anomalies. A similar pattern of anomalies was observed in two previous cases from the literature; however, some peculiar findings suggest that these cases might represent a new multiple congenital anomaly syndrome.
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We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna
## Abstract ## BACKGROUND: Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was reported for the first time in three siblings. Autosomal recessive inheritance was presumed. This