Central diabetes insipidus in a newborn with deletion of chromosome 7q.
We report an infant with midline craniofacial defects and holoprosencephaly due to chromosome 46, XY, del (7) (pter-->q34) who presented at 1 week of age with central diabetes insipidus. The importance of hypothalamic-pituitary endocrine investigation in patients with this syndrome, and more generally, in patients with midline craniofacial malformation or holoprosencephaly is emphasized. As infants with chromosome 7q deletion bear close phenotypic resemblance to infants of Trisomy 13, chromosomal confirmation and karyotype banding is mandatory to establish an accurate diagnosis and for genetic counselling of their parents.
Ng
P C
PC
Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong.
Lee
C H
CH
Fok
T F
TF
Lam
S T
ST
Chan
Y L
YL
Wong
W
W
Cheung
K L
KL
Chan
W K
WK
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D002971:Cleft Lip; D002972:Cleft Palate; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000473:pathology; D003456:Cryptorchidism; D003919:Diabetes Insipidus / Q000175:diagnosis / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome; D014463:Ultrasonography