Results 221 to 230 of about 3,414,711 (270)

Thoracic aortic disease in young patients: from genetics to management. [PDF]

Front Cardiovasc Med
Fatehi Hassanabad A, McKenzie MP, Keir M, Fedak PWM.   +3 more
europepmc   +1 more source

Two-generation Cleidocranial Dysplasia Involving Three Individuals of a Family: A Rare Case Report. [PDF]

Contemp Clin Dent
Wadewale MB, Sachdev SS, Ranganath S.
europepmc   +1 more source

Elevated IGF-1 levels are associated with accelerated bone age advancement during growth hormone therapy in children: a multicenter cohort study. [PDF]

Front Endocrinol (Lausanne)
Ahn J, Jeong H, Suh J, Chae HW.
europepmc   +1 more source

Langer mesomelic dysplasia as a rare manifestation of <i>SHOX</i> deficiency: a narrative review. [PDF]

Front Genet
Piwar H, Pawlasek J, Sielaff P, Sztachelska M, Ordak M.   +4 more
europepmc   +1 more source

Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study. [PDF]

In Vivo
Kouvidi E, Grigoriadou M, Leiletzoglou E, Kolialexi A.   +3 more
europepmc   +1 more source

A new familial short stature syndrome: Brussels type

Clinical Dysmorphology, 1996
A new association of congenital familial short stature with facial dysmorphism and osteochondrodysplastic lesions is described in two siblings. Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism. Radiographs show osteochondrodysplastic lesions with a narrow thorax, short ribs, epiphyseal maturation delay ...
C, Mievis, D, Claus, P, Clapuyt, C, Nyssen-Behets, S, Gosseye, P, Malvaux, C, Verellen-Dumoulin   +6 more
openaire   +3 more sources

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Short stature in a patient with familial glucocorticoid deficiency

Journal of Pediatric Endocrinology and Metabolism, 2011
A 10.5-year-old Caucasian girl with familial glucocorticoid deficiency (FGD) is presented. She had a homozygous S74I mutation of the ACTH receptor and her parents were heterozygous for the same mutation. Around 4 years prior to the diagnosis of FGD, she was diagnosed with antibody positive primary hypothyroidism and was on thyroxin supplementation. FGD
William J. Kovacs
exaly   +3 more sources

A familial syndrome of unusual facies associated with malocclusion and short stature

Humangenetik, 1973
Two sibs with short stature, unusual facies and open bite are described. It appears that the findings in these patients constitute a hitherto undescribed familial entity.
Ergul Tuncbilek, Burhan Say, N Yasuda
exaly   +3 more sources

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

Growth Hormone and IGF Research, 2008
Idiopathic short stature is a condition in which the height of the individual is more than 2 SD below the corresponding mean height for a given age, sex and population, in whom no identifiable disorder is present.
Martin O. Savage, Pinchas Cohen, Alan D Rogol   +2 more
exaly   +2 more sources