[Trichorhinophalangeal syndrome].
A girl with tricho-rhino-phalangeal syndrome is described. Besides clinical and radiologic symptoms of type I of this syndrome (short stature, pear-shaped nose, prominent and elongated philtrum, small carious teeth, thin and sparse hair, badly shaped laterally protruding ears, deep voice, cone-shaped phalangeal epiphyses as well as shortening of metacarpal and metatarsal bones) the patient exhibits a group of abnormalities characteristic for type II (broad nasal bridge, thicker septum, laterally postured nostrils, heavier eyebrows, mild deafness and epilepsy). The girl also has the symptoms of primary hypothyroidism because of the ectopic thyroid gland, the first recorded instance up to now, so it is probably a coincidence.
Dumić
M
M
Klinika za pedijatriju Medicinskog fakulteta i Klinickog bolnickog centra u Zagrebu.
Ille
J
J
Mikecin
M
M
Cvitković
M
M
Hitrec
V
V
Potocki
K
K
D002648:Child; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics
Triho-rino-falangalni sindrom.