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At a glance

Syndrome characterized by microcephalia, mental retardation, dwarfism, and urogenital and skeleton anomalies.

Synonyms

Ruvalcaba-Reichert-Smith Syndrome; Osseous Dysplasia with Mental Retardation Ruvalcaba Type.

History

First described in 1971 by Rogelio H. A. Ruvalcaba, David Weyhe Smith, American pediatricians and A. Reichert, American physician.

Incidence

Less than 20 patients reported.

Genetic inheritance

Uncertain; autosomal dominant; semidominant X-linked inheritance has also been suggested.

Pathophysiology

Unknown.

Diagnosis

Based on typical clinical findings and the familial nature of the syndrome. No specific genetic or biochemical investigation has been described.

Clinical aspects

Features involve head (microcephalia; small, narrow, beak-shaped nose; thin lips and down-slanting palpebral fissures; hypoplastic maxilla; and pointed mandible), musculoskeletal system (short stature; clinodactyly; osteochondritis of the vertebral column and Scheuermann disease [anterior fragmentation of the vertebrae]; narrow trunk; pectus carinatum; kyphosis or scoliosis; short extremities with widening of the epiphyses; limitation of joint extension), urogenital (delayed puberty, hypoplastic testicles, cryptorchism, malrotation, megaureter, and hydronephrosis), and skin (typical hypoplastic “onion skin”). Varying degrees of mental retardation.

Precautions before anesthesia

Complete history particularly related to neurological development needs to be determined. The presence of renal anomalies must be excluded. The association of congenital hydrocephalus and Dandy-Walker anomaly must be eliminated.

Anesthetic considerations

There are no anesthetics reported. Mental retardation may affect cooperation during induction of anesthesia and premedication may be necessary. No anesthetic experience has been reported, but the possibility of a difficult tracheal intubation must be considered in the presence of a hypoplastic maxilla and narrow arch. Careful intraoperative positioning is necessary because of skeletal deformation. Possible association with raised intracranial pressure.

Pharmacological implications

Muscle relaxants should be avoided until airway is secured.

Other conditions to be considered

  • Hunter-McAlpine Craniosynostosis Syndrome: Inherited as an autosomal dominant disorder and characterized by craniosynostosis, mental deficiency, microcephaly, almond-shaped palpebral fissures, oval-shaped face, blunt nose, downturned mouth or small mouth, mild acral-skeletal anomalies, unusually small hands, and dwarfism.

  • Trichorhinophalangeal Syndrome Type III (TRPS III; Sugio-Kajii Syndrome): Characterized by the presence of sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening. Although it was suggested to be an example of Ruvalcaba Syndrome, it is differentiated by the absence of mental retardation and microcephaly. The abnormalities of the hands and feet are more severe. The sparse hair, “pear-shaped nose” and radiological cone-shaped epiphyses are also present as features of TRPS types I and II. However, the presence of severe generalized shortening of all phalanges and metacarpals (brachydactyly) differentiated the condition from TRPSI and the absence of mental deficiency and exostoses ...

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