Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.
Majoor-Krakauer
D F
DF
Wladimiroff
J W
JW
Stewart
P A
PA
van de Harten
J J
JJ
Niermeijer
M F
MF
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D008844:Micrognathism / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography