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Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby
  1. University Department of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK
  1. Dr Kingston,helenk{at}

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Editor—We report a fetus with striking craniofacial dysmorphism, brachydactyly, and cerebral and cardiac malformations in addition to punctate calcification of the epiphyses.

The mother was treated for tuberculosis seven years before the pregnancy but there were no known systemic illnesses or teratogenic influences during this pregnancy. The mother's first pregnancy resulted in a termination at 22 weeks of gestation for multiple congenital abnormalities, but further details are not known.

The baby was the second child born to a 21 year old mother. A termination was performed at 21 weeks of gestation because of multiple anomalies seen on antenatal scanning. Necropsy showed a female fetus (fig 1) with a weight of 1544 g, consistent with 17 weeks' gestation. The crown-heel length was 16.4 cm and right foot length was 18 mm. Facial examination showed an open right eye with exophthalmos, hypertelorism, a flat nasal bridge with hypoplasia of the alae nasi, flattening of the midface, a short philtrum with a well defined philtral groove, large lips, and a wide mouth with micrognathia. The right ear was …

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