50 Kenny-Caffey Syndrome
Kenny-Caffey Syndrome 727
Tubular stenosis, Sanjad-Sakati syndrome included
Proportionate growth retardation, low birth weight, round face, transient hypocalcemia with hyperphos- phatemia leading to tetany, narrow medullary cavi- ties of tubular bones
Frequency: Rare (fewer than 50 documented cases).
Genetics
Genetically heterogeneous; Kenny-Caffey syndrome, type I, is autosomal recessive (OMIM 244460), due to mutations in the gene encoding tubulin-specific chaperone E, TBCE, located on chromosome 1q42-q43; in one family, deletion involved chromo- some 22q11.2; Kenny-Caffey syndrome, type II, is autosomal dominant (OMIM 127000).
Clinical Features
• Proportionate short stature, small hands and feet
• Eye anomalies (nanophthalmos, myopia, cata- racts, corneal/retinal calcification)
• Dental anomalies
• Anemia
• Micro-orchidism, cryptorchidism, small penis
• Transient hypoparathyroidism and hypocalcemia, seizures
• Either normal intelligence or mental retardation (in type I)
Differential Diagnosis
• Primordial dwarfism
• Fetal akinesia sequence
• Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Radiographic Features Extremities
• Narrowing of medullary cavities of tubular bones with or without thickening of cortex
• Reduced diameter of the shafts of the tubular bones, with flared metaphyses
• Mild brachymetacarpalia Skull
• Lack of differentiation of calvaria into diploic space and inner and outer tables (80%)
• Microcephaly (in type I)
• Macrocephaly,delayed closure of anterior fontanel (in type II)
• Intracranial calcifications
• Tooth anomalies (delayed eruption, caries) Generalized Skeletal Abnormalities
• Delayed bone age (60%)
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Fig. 50.1. Patient 1, 27 years. The diploic space is not dis- cernible between inner and outer table
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Bibliography
Bergada I, Schiffrin A, Abu Srair H, Kaplan P, Dornan J, Goltz- man D, Hendy GN. Kenny syndrome: description of addi- tional abnormalities and molecular studies. Hum Genet 1988; 80: 39–42
Diaz GA, Khan KT, Gelb BD. The autosomal recessive Kenny- Caffey syndrome locus maps to chromosome 1q42-q43.
Genomics 1998; 54: 13–8
Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kam- bouris M. Sanjad-Sakati and autosomal recessive Kenny- Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. Am J Med Genet 1999; 85: 48–52
Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez- Bell G, Buzio G, Ferrario E, Piccato E. Kenny-Caffey syn- drome in two sibs born to consanguineous parents: evi- dence for an autosomal recessive variant. Am J Med Genet 1992; 42: 112–6
Majewski F, Rosendahl W, Ranke M, Nolte K. The Kenny syn- drome – a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. Eur J Pediatr 1981; 136: 21–30
Sabry MA, Zaki M, Shaltout A. Genotypic/phenotypic hetero- geneity of Kenny-Caffey syndrome. J Med Genet 1998; 35:
1054–5
Wilson MG, Maronde RF, Mikity VG, Shinno NW. Dwarfism and congenital medullary stenosis (Kenny syndrome).
Birth Defects Orig Art Ser 1974; 10: 128–32 Kenny-Caffey Syndrome
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Fig. 50.2. Patient 1, 27 years.
Note marked narrowing of the medullary cavities due to internal thickening of the cortex. Metaphyses and epi- physes are unaffected. Tubu- lar bones are slender in appearance, with decreased transverse shaft diameters
Fig. 50.3 a, b. Patient 1, 27 years. Considerable narrowing of medullary cavity of tubular bones in the hand
a
b
