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Page 1
Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).
Laron Z. Laron Z. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:231-49. J Pediatr Endocrinol Metab. 1999. PMID: 10698588 Review.
The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. ...
The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are …
Hand size and growth in untreated and IGF-I treated patients with Laron syndrome.
Konen O, Silbergeld A, Lilos P, Kornreich L, Laron Z. Konen O, et al. J Pediatr Endocrinol Metab. 2009 Mar;22(3):235-9. doi: 10.1515/jpem.2009.22.3.235. J Pediatr Endocrinol Metab. 2009. PMID: 19492579
CONCLUSION: Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria....
CONCLUSION: Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth reta …
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs.
Crinò A, Di Giorgio G, Livieri C, Grugni G, Beccaria L, Bosio L, Corrias A, Chiumello G, Trifirò G, Salvatoni A, Tonini G, Gargantini L, de Toni T, Valerio G, Ragusa L, Franzese A, Rinaldi MM, Spera S, Gattinara GC, Villani S, Iughetti L; Genetic Obesity Study Group; Italian Society of Pediatric Endocrinology and Diabetology. Crinò A, et al. J Pediatr Endocrinol Metab. 2009 Oct;22(10):883-93. doi: 10.1515/jpem.2009.22.10.883. J Pediatr Endocrinol Metab. 2009. PMID: 20020576
According to genetic subtypes (deletion vs UPD), only hypopigmentation and acromicria were more frequent in patients with deletion. Some criteria considered as minor or supportive by Holm et al. have higher prevalence than some major criteria. ...
According to genetic subtypes (deletion vs UPD), only hypopigmentation and acromicria were more frequent in patients with deletion. S …
Physical features of Prader-Willi syndrome in neonates.
Aughton DJ, Cassidy SB. Aughton DJ, et al. Am J Dis Child. 1990 Nov;144(11):1251-4. doi: 10.1001/archpedi.1990.02150350083032. Am J Dis Child. 1990. PMID: 2239867
Appreciation of these features may assist the pediatrician in recognizing the child with Prader-Willi syndrome during the neonatal period, before the appearance of better-known findings of later onset, such as obesity and acromicria....
Appreciation of these features may assist the pediatrician in recognizing the child with Prader-Willi syndrome during the neonatal period, b …
Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3--a novel syndrome.
Gat-Yablonski G, Frumkin-Ben David R, Bar M, Potievsky O, Phillip M, Lazar L. Gat-Yablonski G, et al. Am J Med Genet A. 2011 Sep;155A(9):2242-6. doi: 10.1002/ajmg.a.34136. Epub 2011 Aug 3. Am J Med Genet A. 2011. PMID: 21815258
In addition to the typical findings associated with these hormonal deficiencies, she exhibited clinical features resembling those of Laron syndrome (frontal bossing, saddle nose, small chin, blue sclera, and acromicria), with moderate intellectual disability. She also disp …
In addition to the typical findings associated with these hormonal deficiencies, she exhibited clinical features resembling those of Laron s …
Hand and foot length in Prader-Willi syndrome.
Hudgins L, Cassidy SB. Hudgins L, et al. Am J Med Genet. 1991 Oct 1;41(1):5-9. doi: 10.1002/ajmg.1320410103. Am J Med Genet. 1991. PMID: 1951464
Small hands and feet (acromicria) are often cited as manifestations in the Prader-Willi syndrome (PWS), but it has been our experience that these are not universal findings. ...
Small hands and feet (acromicria) are often cited as manifestations in the Prader-Willi syndrome (PWS), but it has been our experienc …
A survey of 22 individuals with Prader-Willi syndrome in New South Wales.
Gavranich J, Selikowitz M. Gavranich J, et al. Aust Paediatr J. 1989 Feb;25(1):43-6. doi: 10.1111/j.1440-1754.1989.tb01412.x. Aust Paediatr J. 1989. PMID: 2730469
Obesity became apparent between 1.5 and 10 years (mean = 3.8 years). Facial dysmorphism was reported in 83% and acromicria in 100%. Sixty-two per cent of subjects were regarded as less pigmented than first degree relatives. ...
Obesity became apparent between 1.5 and 10 years (mean = 3.8 years). Facial dysmorphism was reported in 83% and acromicria in 100%. S …
Oral and dental findings in a child with growth hormone insensitivity syndrome.
Abanto J, Celiberti P, Alves FB, Rossier V, Vieira SA, Ciamponi AL, Raggio DP. Abanto J, et al. J Dent Child (Chic). 2010 Jan-Apr;77(1):54-8. J Dent Child (Chic). 2010. PMID: 20359431
Growth hormone insensitivity syndrome, also known as Laron syndrome, is an autosomal recessive disorder caused by defects the of growth hormone receptor gene and may lead to increased growth hormone levels. This syndrome's main clinical features are: dwarfism; acromicria; …
Growth hormone insensitivity syndrome, also known as Laron syndrome, is an autosomal recessive disorder caused by defects the of growth horm …
Neonatal presentation of Prader Willi sindrome. Personal records.
Maggio MC, Corsello M, Piccione M, Piro E, Giuffrè M, Liotta A. Maggio MC, et al. Minerva Pediatr. 2007 Dec;59(6):817-23. Minerva Pediatr. 2007. PMID: 17978792
Clinical manifestations evolve with age from newborn (hypotonia, poor sucking, hypoplastic external genitalia) to childhood (delay in psychomotor development, hyperphagia, obesity, acromicria and craniofacial dysmorphisms). We present five newborns who received an early di …
Clinical manifestations evolve with age from newborn (hypotonia, poor sucking, hypoplastic external genitalia) to childhood (delay in psycho …