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
MeSH
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 -