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Rolland-Desbuquois dysplasia

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A lethal syndrome of multiple abnormalities, characterized by micromelia, cleft palate, and variable limited mobility of the elbow, wrist, knee, and ankle joints. Symptoms and signs are those of Kniest’s syndrome.

Description

A lethal syndrome of multiple abnormalities, characterized by micromelia, cleft palate, and variable limited mobility of the elbow, wrist, knee, and ankle joints. Occasional occipital encephalocele, inguinal hernia, hydronephrosis, hydrocephalus, and patent ductus arteriosus may be associated. Radiographic findings consist of a small cranial vault, moderately narrow chest with short ribs, small scapulae, severe defects in ossification of the vertebral bodies with vertical clefts and faulty segmentation, horizontal acetubular roofs, rounded iliac wings with short diameters, extremely short limbs with a dumbbell-like shape, flaring and irregular metaphyses with slanted ends, absent epiphyses, and short and wide tubular bones with lateral angulation. It is less severe than the Silverman-Handmaker form of dyssegmental dwarfism and survival beyond the newborn period is frequent. Radiographic changes resemble Kniest dysplasia Inheritance is autosomal recessive.Inheritance is autosomal recessive.

See also:
Kniest's syndrome, or metatrophic dwarfism II, under Wilhelm Kniest, German paediatrician.

Silverman-Handmaker syndrome, a more severe form of dyssegmental dwarfism, under Frederic N. Silverman, American paediatrician, born 1917.

Bibliography

  • J. C. Rolland, J. Langier, B. Grenier, G. Desbuquois:
    Nanisme chondrodystrophique et division palatine chez un nouveau-né.
    Annales de pédiatrie, Paris, 1972, 19: 139-142.
  • S. H. Handmaaker, et al:
    Dyssegmental dwarfism: A new syndrome of lethal dwarfism.
    Birth Defects Original Article Series, New York, 1977, 8(3D): 79-90.

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