Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.
Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.
Stoll
C
C
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Benoit
F
F
Peter
M O
MO
Gasser
B
B
D003286:Contracture / Q000151:congenital*; D019066:Facies; D005260:Female; D005333:Fetus / Q000503:physiopathology; D016142:Holoprosencephaly / Q000175:diagnosis; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging; D018476:Hypokinesia; D007231:Infant, Newborn; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D010855:Pierre Robin Syndrome; D011247:Pregnancy; D016216:Ultrasonography, Prenatal