Synostosis of many small joints.
Polysynostosis Syndrome; Synostosis Multiplex.
Familial; autosomal dominant inheritance.
Chromosome 17q 21-22 has been linked to the disease.
Symphalangism, synostoses of the tarsal and carpal
bones, and other abnormalities, including orofacial defects and delayed
mental development, occurring alone or as a component of other syndromes.
Numerous skeletal deformities should evoke the
Hand abnormalities include synostoses of the
carpal bones, radial head subluxation, hypoplasia of the middle phalanges,
and metacarpophalangeal synostoses; short and broad first metacarpal bones,
disturbances in bone modeling of the metacarpal bones and phalanges, and
agenesis of the middle phalanges. Foot abnormalities include synostoses of
the tarsal bones, synostoses of the tarsal and metatarsal bones, agenesis of
the middle and distal phalanges, and disturbance in bone modeling of the
phalanges. Hypoplasia of the alae nasi. Short upper lip. Cubitus valgus,
limited extension of the forearm, and limited hip motion. Variable fusion of
middle ear ossicles. Moderate mental retardation.
Complete neurologic and motor
examination encompassing milestones, parental information, and chart
information. Determine if another syndrome is associated and its
implications. If the patient receives chronic corticosteroid treatment,
preoperative supplementation is indicated.
Difficult vascular access; potentially
uncooperative patient. In presence of orofacial anomalies, the possibility
of difficult direct laryngoscopy and tracheal intubation must be suspected.
Nasal intubation probably problematic.
No known implications for this
Legg-Calvé-Perthes Disease: Group of disorders known as the
osteochondroses. Believed to be caused by unexplained interruption of the
blood supply to the capital femoral epiphysis resulting in avascular
necrosis. Clinically, this disease is characterized by limp with or without
pain in the hip, knee, thigh, and groin.
Pseudo-Achondroplastic Dysplasia: Rare inherited disorder
characterized by skeletal malformations resulting in short-limbed dwarfism.
Affected individuals present brachydactyly, genu varum, and genu valgum. In
addition, affected individuals may have lumbar lordosis and kyphosis. Cases
of pseudoachondroplastic dysplasia are the result of mutations of the COMP
gene, indicating this disorder is allelic to some cases of multiple
da-Silva EO, Filho SM, de Albuquerque SC: Multiple synostosis syndrome:
Study of a large Brazilian kindred. Am J Med Genet
Jones KL: Multiple synostosis syndrome, in Jones KL (ed): Smith's Recognizable Patterns of Human Malformation.
Philadelphia, WB Saunders, 1997, p 432.
Krakow D, Reinker K, Powell B, et al: Localization of a multiple synostoses syndrome disease
gene to chromosome 17q 21-22. Am J Hum Genet
Shiraishi M, Minami K: Anesthesia for a child with Antley-Bixler Syndrome.
Can J Anaesth