Lymphatic, tooth and skin manifestations in Turner syndrome

Gunther, Daniel F.; Sybert, Virginia P.

doi:10.1016/j.ics.2006.06.001

Cited by 8 publications

(16 citation statements)

References 13 publications

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“…The majority of cases (~45%) are characterised by sex chromosome monosomy (45,X) 1 , with the remaining cases caused by a structurally abnormal X-chromosome or mosaicism. Turner Syndrome is associated with prenatal lethality, with approximately 98% of 45,X conceptuses spontaneously aborting 2 . The clinical phenotype is variable and can be subtle, though it most commonly presents with short stature and primary amenorrhoea (60-90% cases) 3 .…”

Section: Introductionmentioning

confidence: 99%

“…Lymphoedema of the hands and feet is thought to be present in more than 60% of infants with Turner Syndrome. This facilitates an early diagnosis in approximately one third of patients 2 . Swollen hands and feet in a female neonate always suggest a diagnosis of Turner Syndrome 2 .…”

Section: Introductionmentioning

confidence: 99%

“…This facilitates an early diagnosis in approximately one third of patients 2 . Swollen hands and feet in a female neonate always suggest a diagnosis of Turner Syndrome 2 . Lymphoedema is thought to result from lymphatic hypoplasia or aplasia of the lymphatic tracts, which results in stasis of lymph fluid and swelling 2,8,12 .…”

Section: Introductionmentioning

confidence: 99%

“…Swollen hands and feet in a female neonate always suggest a diagnosis of Turner Syndrome 2 . Lymphoedema is thought to result from lymphatic hypoplasia or aplasia of the lymphatic tracts, which results in stasis of lymph fluid and swelling 2,8,12 . Many phenotypic features of Turner Syndrome are believed to result from in utero oedema 2 .…”

Section: Introductionmentioning

confidence: 99%

“…Lymphoedema is thought to result from lymphatic hypoplasia or aplasia of the lymphatic tracts, which results in stasis of lymph fluid and swelling 2,8,12 . Many phenotypic features of Turner Syndrome are believed to result from in utero oedema 2 . Cervical lymphatic system distension manifests as a webbed neck and a low posterior hairline 2 (observable as increased nuchal translucency on ultrasound scanning (USS) at 10-14 weeks 8,12 ).…”

Section: Introductionmentioning

confidence: 99%

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The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

et al. 2015

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Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

et al. 2015

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Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features

Hume,

Cossio,

Vargas

et al. 2024

American J of Med Genetics Pt A

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RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS‐MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation‐arteriovenous malformation type 1 (CM‐AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast‐flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM‐AVM type 1 and propose a new RASA1 variant as likely pathogenic.

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Dermatologic Conditions in Turner Syndrome

Haskin

Lowenstein

2020

Turner Syndrome

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Lymphatic, tooth and skin manifestations in Turner syndrome

Cited by 8 publications

References 13 publications

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features

Dermatologic Conditions in Turner Syndrome

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