[The campomelic syndrome (author's transl)]. 1976

K J Berndt, and R Seiler, and R A Pfeiffer

Case report of a male infant who died from asphyxia on the second day of life and who exhibited typical features of the campomelic syndrome: odd facies, bowing of the long bones of the legs, skeletal deformities, cleft palate. There was also coarctatio of the aorta and probably aplasia of the fibula.

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
D008297 Male Males
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005269 Femur The longest and largest bone of the skeleton, it is situated between the hip and the knee. Trochanter,Greater Trochanter,Lesser Trochanter,Femurs,Greater Trochanters,Lesser Trochanters,Trochanter, Greater,Trochanter, Lesser,Trochanters,Trochanters, Greater,Trochanters, Lesser
D005360 Fibula The bone of the lower leg lateral to and smaller than the tibia. In proportion to its length, it is the most slender of the long bones. Fibulas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006811 Humerus Bone in humans and primates extending from the SHOULDER JOINT to the ELBOW JOINT. Humeri,Greater Tubercle,Humeral Greater Tuberosity,Humeral Lesser Tuberosity,Lesser Tubercle,Olecranon Fossa,Olecranon Fossi,Greater Tubercles,Greater Tuberosities, Humeral,Greater Tuberosity, Humeral,Humeral Greater Tuberosities,Humeral Lesser Tuberosities,Lesser Tubercles,Lesser Tuberosities, Humeral,Lesser Tuberosity, Humeral,Tubercle, Greater,Tubercles, Greater
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D001017 Aortic Coarctation A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. Coarctation of Aorta,Coarctation of Aorta Dominant,Coarctation of the Aorta,Aorta Coarctation,Aorta Coarctations,Aorta Dominant Coarctation,Aorta Dominant Coarctations,Aortic Coarctations,Coarctation, Aortic,Coarctations, Aortic
D001238 Asphyxia Neonatorum Respiratory failure in the newborn. (Dorland, 27th ed)

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