Results 231 to 240 of about 1,790,196 (391)

A report study of successful surgical treatment of an aorto-left ventricular tunnel in a 5-year-old boy: differential diagnosis from other congenital heart diseases with similar clinical symptoms. [PDF]

Egypt Heart J
Yaghoubi Golverdi A, Jalali A, Mahdavi M, Nabavi SS, Ganjifard M, Bahramian M, Bahramian M, Shafiei SS.   +7 more
europepmc   +1 more source

Two Cases of Hereditary Congenital Word-Blindness [PDF]

, 1911
James Hinshelwood
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

An Enlarging Mass Superimposed on a Giant Congenital Melanocytic Nevus: A Case Report and Review of Literature. [PDF]

Clin Case Rep
Al-Zubaidi N, Sayna S, Kani ZA, Gheisari M, Zahedi K.   +4 more
europepmc   +1 more source

Congenital steatorrhoea due to pancreatic defect [PDF]

, 1938
Marilyn H. Harper
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Inpatient outcomes among children with Down syndrome: a Kids' Inpatient Database study. [PDF]

BMC Pediatr
Tsou PY, Wang YH, Tapia IE.
europepmc   +1 more source

CONGENITAL ELEVATION OF THE SCAPULA

, 1917
John F. Binnie
openalex   +2 more sources

CONGENITAL IDIOPATHIC DILATATION OF THE COLON [PDF]

, 1899
J. P. Crozer Griffith
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source