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Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families
American Journal of Medical Genetics, 1997We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and the affected relatives in the second family were only short compared to unaffected relatives.
D, Chitayat +11 more
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Familial Blepharophimosis-Like Syndrome with Esotropia, Uveal Coloboma, and Short Stature
Ophthalmic Genetics, 2006Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES). Thought to be due to a contiguous gene syndrome, the recognizable phenotype of 3q interstitial deletion includes BPES facies and has not been associated with other loci.To describe a familial syndrome that resembles ...
Arif O, Khan +4 more
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Uncommon association of familial short stature with primary intestinal lymphangiectasia
BMJ Case ReportsPrimary intestinal lymphangiectasia (PIL) is a rare cause of lymphatic dysfunction leading to enteric protein loss in children. This case report describes a male child, with familial short stature who presented with chronic diarrhoea, anaemia, anasarca, lymphopaenia and hypoalbuminaemia due to PIL.
Prerna Priyadarshini +3 more
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Microcephaly-lymphedema syndrome: Report of a family with short stature as additional manifestation
American Journal of Medical Genetics, 1998Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked
S, Strenge, U G, Froster
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Familial short stature and coeliac disease: a family case report.
The New Zealand medical journal, 1983A case of coeliac disease associated with growth retardation and pubertal failure in a 19 year old female is reported. Diagnosis was delayed by use of the term 'undiagnosed short stature'. Investigations confirmed severe malabsorption, osteoporosis and marked delay in bone growth associated with small bowel mucosal atrophy. HLA screening of the patient'
N, Gilchrist, E A, Espiner, H B, Cook
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A familial syndrome of short stature associated with facial dysplasia and genital anomalies
The Journal of Pediatrics, 1970The following report presents the clinical findings and natural history of a growth disorder affecting seven male patients from the same family. In addition to short stature they all had a similar pattern of anomalies and the condition appears to constitute a previously undescribed, probably X-linked recessive, nosologic entity.
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Intrauterine growth retardation and familial short stature.
Bailliere's clinical endocrinology and metabolism, 1992Intrauterine growth retardation (IUGR) is an important cause of small stature in children presenting to paediatric endocrinologists. IUGR has to be differentiated from familial ('constitutional') short stature, where the growth deficit is genetically determined and/or induced by smallness of the mother (maternal constraint).
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NPR2 gene variants in familial short stature: a single-center study
Journal of Pediatric Endocrinology and Metabolism, 2022Ke Yuan, Jianfang Zhu, Hong Chen
exaly