Hereditary skeletal dysplasia resulting in
proportionate dwarfism characterized by thickening of the inner corticalis and
stenosis of the medullary cavities of the tubular bones.
Dwarfism-Congenital Medullary Stenosis Syndrome;
Dwarfism-Tubular Bone Stenosis; Hypoparathyroidism-Retardation-Dysmorphism
Syndrome (HRD); Kenny Syndrome; Kenny-Linarelli Syndrome; Tubular
Stenosis-Hypocalcemia-Convulsions-Dwarfism Syndrome; Tubular
Stenosis-Periodic Hypocalcemia Syndrome; Tubular Stenosis with Hypocalcemia.
Approximately 55 cases have been described. Both sexes are affected with equal
A genetic disorder caused by truncation
mutations of the TBCE (tubulin-specific chaperone E) gene. Autosomal recessive; reported almost exclusively
in Middle Eastern populations. Autosomal dominant and X-linked transmission is also
Sporadic cases may be a result of new
mutations. Genetic defect located on chromosome 1 (locus 1q42-q43).
The most striking biochemical finding is
hypocalcemia, which is related to hypoparathyroidism in 46% of cases. The
hypocalcemia is frequently associated with seizures or episodes of tetany.
Thickening of long bone cortices and the calvaria of the skull are common
findings. The cortical thickening is associated with medullary stenosis.
Based on a constellation of clinical findings in
addition to persistent hypocalcemia and low-to-normal parathyroid hormone
assays. Growth hormone and thyroid hormone levels usually are normal. Anemia
is present in 30% of patients.
Proportionate growth retardation (prenatal and
postnatal) associated with delayed bone age is the most common feature.
Medullary stenosis of the long bones is common, and delayed closure of the
anterior fontanelle occurs in 90% (fontanelle may remain open into
teenage years). Sixty percent of patients have convulsions and tetany.
Fatal outcome of these convulsions has been reported. Ophthalmic abnormalities are common: most frequently microphthalmia and
hyperopia, as well as strabismus, congenital glaucoma, and pseudopapilledema.
Intelligence usually is normal, but psychomotor delay may be present.
Obtain a complete blood count and check the electrolytes.
Evaluation of the eyes, particularly for presence
Calcium levels should be closely monitored
during long procedures. Hypocalcemia should be considered in the
differential diagnosis of postoperative seizures or tetany. In the presence of
glaucoma, avoid eye compression and other measures that may potentially increase
Succinylcholine should be avoided in
the presence of glaucoma.
DiGeorge Syndrome: An inherited disorder with
recurrent infections, defective thymus
functions, heart defects, and characteristic facial features.
Velocardiofacial Syndrome: A hereditary disease characterized by
heart defects, cleft palate or
velopharyngeal insufficiency, typical facies, learning disabilities, and
multiple other physical anomalies.
Camurati-Engelmann Syndrome: A musculoskeletal syndrome leading to
enhanced bone formation, hyperostosis and sclerosis of the diaphyses of the
Craniodiaphyseal Dysplasia: A bone disorder characterized by marked
hyperostosis of the craniofacial bones and diaphyseal expansion of the
tubular bones resulting in significant clinical complications.
Abdel-Al Y, Auger T, El-Gharbawy F: Kenny-Caffey syndrome: Case report
and literature review. Clin Pediatr 28;4:175, 1989.
Parvari R, Hershkovitz E, Grossman ...