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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?
Genet Couns. 1992; 3(1):53-6.GC

Abstract

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.

Links

gene/protein/disease-specific

Authors+Show Affiliations

Meinecke P
Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany.
Peper M
No affiliation info available

MeSH

Abnormalities, MultipleChoanal AtresiaEctromeliaFemaleFetal Growth RetardationFrontal BoneGallbladderHeart Defects, CongenitalHumansInfant, NewbornKidneyNasal BoneSpleenSyndromeThumbUterusVagina

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1590982

Citation

Meinecke, P, and M Peper. "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?" Genetic Counseling (Geneva, Switzerland), vol. 3, no. 1, 1992, pp. 53-6.
Meinecke P, Peper M. 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? Genet Couns. 1992;3(1):53-6.
Meinecke, P., & Peper, M. (1992). 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? Genetic Counseling (Geneva, Switzerland), 3(1), 53-6.
Meinecke P, Peper M. 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. Genet Couns. 1992;3(1):53-6. PubMed PMID: 1590982.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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? AU - Meinecke,P, AU - Peper,M, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 53 EP - 6 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 3 IS - 1 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/1590982/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 L2 - http://www.diseaseinfosearch.org/result/5853 DB - PRIME DP - Unbound Medicine ER -