Brachmann-de Lange syndrome: a cause of early symmetric fetal growth delay.
Brachmann-de Lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent.
Boog
G
G
Department of Obstetrics and Fetal Medicine, Centre Hospitalier Universitaire de Nantes, France.
Sagot
F
F
Winer
N
N
David
A
A
Nomballais
M F
MF
D000328:Adult; D019465:Craniofacial Abnormalities / Q000209:etiology; D003635:De Lange Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology*; D005865:Gestational Age; D006130:Growth Disorders / Q000209:etiology*; D006628:Hirsutism / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal