Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis.
We describe a girl infant with anomalies of the left pelvis and lower limb (pelvic, femoral, and tibial hypogenesis with absent fibula), subtle facial changes, patent foraman ovale, single umbilical artery, single kidney, and imperforate anus. The external genitalia were asymmetric and ambiguous with normal uterus and ovaries visualized by ultrasound. The anomalies are compatible with previously reported cases of Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia, an autosomal recessive disorder with WNT7 gene mutations documented in one family. We suggest that AARRS phocomelia, Fuhrmann syndrome, and similar conditions comprise a spectrum, and that the anomaly pattern derives from serial action of the same signal pathways within primary (e.g., the major axes), secondary (e.g., heart or limb primordia), and/or local (e.g., tibial-fibular differentiation) developmental fields.
Subhani
Muhammad
M
Department of Pediatrics, Texas Tech Health Sciences Center at Amarillo, Amarillo, Texas 75209, USA.
Akangire
Gangaram
G
Kulkarni
Archana
A
Wilson
Golder N
GN
D001006:Anus, Imperforate / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002657:Child Development / Q000502:physiology; D004480:Ectromelia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D047109:Fetal Development / Q000235:genetics / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D051153:Wnt Proteins / Q000235:genetics
C092778:WNT7A protein, human; D051153:Wnt Proteins