Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.
A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded.
Mollica
F
F
Clinica Pediatrica, Scuola di Specializzazione in Genetica Medica, Università di Catania, Italy.
Mazzone
D
D
Cimino
G
G
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities