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From early childhood, Turner syndrome patients have a flattened cranial base, maxillary retrognathism, and short hands. There are, however, no studies that show when these genotype-determined abnormalities occur prenatally. The purpose of the present study was to measure craniofacial profile and hand radiographs of second trimester foetuses with Turner syndrome and compare the results with similar measurements from normal foetuses. The subjects consisted of 12 Turner syndrome foetuses, gestational age (GA) varying between 15 and 24 weeks, and crown-rump length (CRL) between 108 and 220 mm. The mid-sagittal block of each cranium was analysed as part of the requested brain analysis (pituitary gland analysis). This block and the right hand from seven foetuses were radiographed, and the skeletal maturity of the cranial base complex, i.e. the cranial base and the maxilla, was evaluated from the profile radiographs. Shape and size measurements in the cranial base were performed, and compared with normal values according to cranial maturity and to CRL. The cranial base angle in Turner syndrome was greater and the maxillary prognathism was reduced compared with the normal group. The dimensions in the cranial complex and in the hand showed that the bone lengths and distances in relation to CRL were generally smaller compared with normal foetuses. This investigation showed that the abnormal shape of the cranial base complex and the short hands in Turner syndrome are present prenatally.

The prenatal cranial base complex and hand in Turner syndrome