Journal ArticleDOI
A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome
TLDR
Two patients are described who died in early infancy who displayed similar complexes of congenital anomalies of which the following ones were found in both: low-set and malformed ears, small mandible, flexion deformities of the fingers, anomalous feet, interventricular septal defect, spasticity with probable mental defect, and diverticulum of the intestine.About:
This article is published in The Journal of Pediatrics.The article was published on 1960-09-01. It has received 184 citations till now. The article focuses on the topics: Trisomy.read more
Citations
More filters
Journal ArticleDOI
Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.
TL;DR: Study of series of cases of Edwards' and Patau's syndromes allows the spectrum of clinical signs of these conditions to be assessed, and data have been collected in a standard fashion in order to assess the clinical overlap between the two syndrome.
Journal ArticleDOI
The trisomy 18 syndrome
Anna Cereda,John C. Carey +1 more
TL;DR: The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes.
Journal ArticleDOI
Observations on the satellited human chromosomes.
Journal ArticleDOI
Congenital Malformations in Autosomal Trisomy Syndromes
TL;DR: It is worthwhile and timely to relate the results of autosomal trisomy studies to classifications of pathology and teratology of the various organ systems.
Journal ArticleDOI
Cardiac malformation in mongolism: a prospective study of 184 mongoloid children.
Richard D. Rowe,Irene A. Uchida +1 more
TL;DR: A low axial triradius in the palmar dermal pattern of mongoloid subjects with significant heart malformation was found less frequently than in those with normal hearts, and the importance for prognosis of recognizing such malformation early in life is emphasized.
References
More filters
Journal ArticleDOI
Multiple congenital anomaly caused by an extra autosome.
Journal ArticleDOI
A new trisomic syndrome.
Journal ArticleDOI
The somatic chromosomes in mongolism
Journal ArticleDOI
Bilateral renal agenesis.
TL;DR: Twenty instances of complete renal agenesis have been observed during a ten-year period among approximately 5,000 infants who were subjected to postmortem examination following intrauterine death or death in the neonatal period.
Journal ArticleDOI