Early puberty in Williams syndrome

Cherniske, Elizabeth M.; Sadler, Laurie S.; Schwartz, D; Carpenter, Thomas O.; Pober, Barbara R.

doi:10.1097/00019605-199904000-00006

Cited by 16 publications

(14 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As it is known, WS patients have a tendency to central precocious puberty and abbreviated pubertal growth spurt, especially in boys (27,28). The early pubertal development and the short duration of this period contribute to the decreased final height (27). In our study, eight (16%) patients had precocious puberty which seems to be higher than the one reported in the literature (29).…”

Section: Discussioncontrasting

confidence: 45%

See 1 more Smart Citation

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

View full text Add to dashboard Cite

Section: Discussioncontrasting

confidence: 45%

Section: Discussionmentioning

confidence: 99%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

View full text Add to dashboard Cite

“…The etiology of primary amenorrhea observed in our patient is unusual and cannot be completely explained by her genotype. Williams syndrome is known to be associated with CPP [Scothorn and Butler, 1997;Cherniske et al, 1999;Douchi et al, 1999]. A study by Partsch et al [2002], including 171 girls and women with Williams syndrome, showed that 93 of them had precocious puberty.…”

Section: Discussionmentioning

confidence: 99%

Williams Syndrome and 15q Duplication: Coincidence versus Association

2016

View full text Add to dashboard Cite

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN-specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

show abstract

“…Early puberty also often contributes to the low final adult height (Cherniske, Sadler, Schwartz, Carpenter & Pober, 1999). The facial dysmorphology is particularly characteristic.…”

Section: B the Ws Physical Phenotypementioning

confidence: 99%

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

Karmiloff‐Smith

Thomas

2003

Dev Psychopathol

View full text Add to dashboard Cite

The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules. Such arguments have particularly been marshalled with respect to language. We challenge this direct generalisation from adult phenotypic outcomes to genetic specification, and consider instead how genetic disorders provide clues to the constraints on plasticity that shape the outcome of development. We specifically examine behavioural studies, brain imaging and computational modelling of language in Williams syndrome, but contend that our theoretical arguments apply equally to other cognitive domains and other developmental disorders. While acknowledging that selective deficits in normal adult patients might justify claims about cognitive modularity, we question whether similar, seemingly selective deficits found in genetic disorders can be used to argue that such cognitive modules are pre-specified in infant brains. Cognitive modules are, in our view, the outcome of development, not its starting point. We note that most work on genetic disorders ignores one vital factor: the actual process of ontogenetic development, and argue that it is vital to view genetic disorders as proceeding under different neurocomputational constraints, not as demonstrations of static modularity.

show abstract

Early puberty in Williams syndrome

Cited by 16 publications

References 0 publications

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Williams Syndrome and 15q Duplication: Coincidence versus Association

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

Contact Info

Product

Resources

About