Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome?
Report on a female infant who showed intrauterine growth retardation; dysmorphic face with relative macrocephaly, mild frontonasal dysplasia, and small dysmorphic ears; phocomelic upper limbs with absent thumbs and radiologically poor differentiation of the long tubular bones but normal lower limbs. Autopsy revealed multiple internal abnormalities including choanal atresia, complex heart malformation, bilobed lung on the right, polysplenia, absent gall bladder as well as genitourinary anomalies. This condition represents a possibly "new" MCA syndrome with poor prognosis and yet unknown etiology.
Meinecke
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P
Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany.
Peper
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M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005624:Frontal Bone / Q000002:abnormalities*; D005704:Gallbladder / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D009295:Nasal Bone / Q000002:abnormalities*; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities