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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2010, Volume 152A, Issue 1, pp. 84 - 90
Journal Article
Clinical dysmorphology, ISSN 0962-8827, 1992, Volume 1, Issue 1, pp. 37 - 41
We present two unrelated female patients with a complex pattern of congenital malformations including encephalocele, oesophageal atresia, abnormal lung... 
Humans | Abnormalities, Multiple | Lung - abnormalities | Spleen - abnormalities | Esophagus - abnormalities | Syndrome | Anal Canal - abnormalities | Encephalocele | Kidney - abnormalities | Heart Defects, Congenital | Liver - abnormalities | Female | Arm - abnormalities | Infant, Newborn
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/1999, Volume 36, Issue 1, pp. 71 - 72
We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay,... 
Interstitial deletion | Deletion 10q | Multiple congenital anomaly (MCA) syndrome | Chromosome 10 | deletion 10q | multiple congenital anomaly (MCA) syndrome | interstitial deletion | chromosome 10 | GENETICS & HEREDITY
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/1983, Volume 14, Issue 3, pp. 461 - 466
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/1988, Volume 34, Issue 1, pp. 48 - 59
Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21→qter and in the others 7q22→qter, 7q34→qter and... 
multiple congenital anomalies (MCA) syndrome | autosomal trisomy | duplication 7q | cytogenetics | Translocation, Genetic | Trisomy | Chromosome Banding | Humans | Infant | Male | Chromosomes, Human, Pair 7 | Syndrome | Phenotype | Karyotyping | Female | Abnormalities, Multiple - genetics | Infant, Newborn
Journal Article
Upsala journal of medical sciences. Supplement, ISSN 0300-9726, 1987, Volume 44, p. 221
A program for treatment--of high medical, emotional and social standard--for families with children with multiple congenital anomalies-mental retardation... 
Humans | Social Support | Child, Preschool | Family Health | Infant | Intellectual Disability - complications | Male | Social Environment | Syndrome | Sweden | Parents - psychology | Abnormalities, Multiple - complications | Family | Female | Child | Infant, Newborn
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 03/1980, Volume 133, Issue 2, pp. 163 - 166
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 05/1983, Volume 15, Issue 1, pp. 3 - 28
We report 17 cases of the campomelic syndrome (CS) and a follow‐up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is... 
multiple congenital anomalies (MCA) syndrome | sex reversal | male sex limitation | Pierre Robin anomaly | pleiotrophy | campomelic syndrome | talipes equinovarus | congenital bowing of leg bones | autosomal recessive inheritance | skeletal dysplasia
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 04/1988, Volume 29, Issue 4, pp. 909 - 915
Journal Article
Acta Pædiatrica, ISSN 0803-5253, 07/1980, Volume 69, Issue 4, pp. 567 - 570
. Oberiter, V., Kadrnka Lovrenc'i, M., Schmutzer, Lj. and Kraus, O. (Department of Paediatrics and Department of Urology, Dr. Mladen Stojanovi University... 
dermatoglyphics | abnormalities of the hands | Multiple congenital anomaly (MCA) syndrome | anomaly of the scrotum | peculiar facies | PEDIATRICS | Dermatoglyphics | Hand Deformities, Congenital | Scrotum - abnormalities | Pedigree | Face - abnormalities | Humans | Adolescent | Female | Male | Abnormalities, Multiple - genetics | Syndrome
Journal Article
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