VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient.
The association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) with hydrocephalus (VACTERL-H) has recently been described. Both X linked and autosomal recessive forms have been described which are mostly indistinguishable clinically. Here we report a female newborn infant with hydrocephalus detected antenatally, oesophageal atresia with tracheo-oesophageal fistula, anal atresia, renal and vertebral anomalies, and triphalangeal thumb as well as primary hypothyroidism.
Vatansever
Ulfet
U
Trakya University Faculty of Medicine, Department of Pediatrics, Edirne, Turkey. uvatansever@trakya.edu.tr
Başaran
Umit Nusret
UN
Güzel
Ahmet
A
Acunaş
Betül
B
Balci
Sevim
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000473:pathology; D007037:Hypothyroidism / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D013933:Thumb / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed