Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.
Two non-related patients, a boy and a girl, are described suffering from distal arthrogryposis and facial dysmorphism consisting of flat face, hypertelorism and telecanthus, small mouth with thin, downturned upper lip, micrognathia, cleft palate and simple, low-set, posteriorly angulated ears. Feeble fetal movements (case 2), polyhydramnion (case 1) and lung hypoplasia (case 2) were present. On follow-up, both children were severely developmentally retarded. These findings are consistent with the Fetal A/hypokinesia Deformation Sequence (FADS). Survival beyond the neonatal period in this heterogeneous condition seems to be rare. Clinical descriptions of infants with FADS surviving the neonatal period are most important in order to delineate clinically recognizable entities; it may help to disclose pathogenetic basic mechanisms.
Schrander-Stumpel
C T
CT
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Fryns
J P
JP
Schrander
J J
JJ
Vles
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001176:Arthrogryposis / Q000175:diagnosis*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005324:Fetal Movement; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000209:etiology; D008168:Lung / Q000002:abnormalities; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis*