Abstract
An 800-gram male baby was bom as product of twin 27-week gestation by emergency C-section due to fetal distress. The first male baby was phenotypically normal and required little resuscitation. The second baby has multiple congenital anomalies including triangular face, down slanting palbebral fissures, cleft palate, small low set posterior rotated ears with preauricuiar and buccal skin tags, absent thumbs, elbow contractures and by X-ray showed radioulnar synostosis. Abdominal ultrasound showed horse-shoe kidney with grade I hydronephrosis, which later complicated by bilateral renal calculi. Echochardiogram showed PDA, which was treated medically. The baby required ventilatory support due to severe tracheomalacia and bronchomalacia, and tracheostomy was done before extubation. Due to gastro-oesphageal reflux, the baby was fed by D-tube feeding through the period of hospitalization till G-tube was placed with fundoplication. Pathology study of the placenta showed that it is diamniotic, dichorionic placenta. The baby did not pass BAER test, with suggestion of mild to moderate bilateral deafness. Karyotype showed normal 46, XY male for the proband and his twin brother. A chromosome breakage study was doneto rule out Fanconi syndrome and it was negative. A FISH study using ZFP37 probe, which has been mapped on 9q32 and is expressed in several human tissues including fetal cartilage and could be linked to Nager's syndrome, is in progress. DNA sequencing mutation study of that ZFP37 in our patient will also be explored.
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Ahmed, M., Smith, W., Koeberl, D. et al. Clinical and Molecular diagnosis of Nager syndrome in a preterm Infant (27 week gestation) – A case report. Genet Med 2, 75 (2000). https://doi.org/10.1097/00125817-200001000-00084
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DOI: https://doi.org/10.1097/00125817-200001000-00084