[McKusick-Kaufman syndrome in a new born girl (author's transl)]. 1982

Y Castel, and L Toudic, and D Alix, and H Le Guern, and A Colin, and J Lavaud, and C Le Gouguec

In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D001842 Bone and Bones A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX. Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004613 Ellis-Van Creveld Syndrome Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed) Chondroectodermal Dysplasia,Ellis-Van Creveld Dysplasia,Mesoectodermal Dysplasia,Chondroectodermal Dysplasias,Dysplasia, Chondroectodermal,Dysplasia, Ellis-Van Creveld,Dysplasia, Mesoectodermal,Ellis Van Creveld Dysplasia,Ellis Van Creveld Syndrome,Mesoectodermal Dysplasias,Syndrome, Ellis-Van Creveld
D005260 Female Females
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014621 Vagina The genital canal in the female, extending from the UTERUS to the VULVA. (Stedman, 25th ed) Vaginas

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