Syndrome of Whetstone sheath-Lowry

not to confuse this syndrome with the Syndrome of Whetstone sheath-Siris

Described independently by Whetstone sheath in 1966 and Lowry in 1971, the syndrome of Whetstone sheath-Lowry was characterized by a Backwardness important among boys and a backwardness variable or absent in the girls Hétérozygote S. the facies is characteristic in the teenagers and the adults. The hands are small with a hyperextensibilitè fingers which are often small and fine. The boys present a constant delay of growth. The Microcéphalie is usual. A cardiopathy is sometimes found contributing to the mortality of this syndrome. Episodes of sharp decline without loss of conscience induced by a tactile or auditive stimulus appears towards adolescence in 20% of the cases. The occurred late one of a scoliosis is the characteristic more striking this disease.

The gene RPS6KA3 code the ribosomal Protein S6 kinase alpha 3 which acts on the ATF4, a Facteur of transcription (protein which controls the form of genes) essential to the maturation of the Ostéoblaste S and to the synthesis of Collagène of the type I. The change of gene RSK2 induces a reduction in the number of mature osteoblasts and cause an osseous weight saving. Collagen deficiency explains the progressive degradation of the vertebrae subjected to strong constraints.

RSK2 phosphoryl also CREB, a factor of transcription.

The Séquençage makes it possible to find a change in 40% of the cases.

Description

The syndrome of Whetstone sheath-Lowry is a major backwardness associated with anomalies de
Croissance
  • the intra-uterine growth is normal but the native growth post is very weak, being towards the third percentile. A microcephalus appears sometimes.
Teeth
  • Small tooth, hypodontie, the retrognathy in the young people is replaced by a prognathism.
Neurology & Behavior
  • Often described like merry and pleasant but it are not a constant feature. This pathology is also responsible for sharp declines without loss of conscience at the time of visual and auditive stimuli. These demonstrations affect approximately 20% of the patients.
Cardio-vasculaire
  • the cardiac anomalies affect 15% of the patients.
Squelette
  • kyphosis progressive scoliosis reaches 1 patient out of 2.
Hearing and vision
  • the anomalies of hearing are frequent and must be required. The anomalies of the vision are less frequent.

Diagnosis

The diagnosis in early childhood is not easy: the characteristics, especially facial, do not become obvious that during adolescence.

Private clinic

The most important clinical signs for the diagnosis are:
Dysmorphie facial
  • Hypertélorisme (distance increased between the orbits).
  • thick and éversée Lower lip.
  • Broad nose with a thick philtrum.
  • prominent Face.
  • Large ears low established.
Anomalies of the hands
  • Hands bouffies.
  • short and curved Nails.
  • soft and elastic Skin.
  • the fingers are short and conical. This characteristic is one of the surest clinical signs for the diagnosis of this pathology.
osseous Anomalies
  • Small size.
  • sagging Sternum (pectum excavatun) or projecting (pectum carinatum).
  • Cypho scoliosis.

Radiological

  • Space inter vertebral tiny room.
  • Cranium

Biological

  • the evaluation of the activity of ribosomal kinase 6 on culture of fibroblast is average a rapid to have the diagnosis in the event of suspicion at a boy.

Differential diagnosis

Sources

  • Site in French of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 303600 * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 300075 * Alasdair GW Hunter, Charles E Schwartz, Fatima E Abidi, Whetstone sheath-Lowry Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006 ==Références==
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