Craniometaphyseal Dysplasia Research Articles

Bone Scan Findings in Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by undertubulation of the long bones, especially in the lower extremities, and sclerosis of the skull base. Differentiation from other sclerosing bone dysplasias, including metaphyseal dysplasia (Pyle's disease), craniodiaphyseal dysplasia, and diaphyseal dysplasia is based largely on characteristic radiographic findings. Radionuclide bone scans usually are not necessary for diagnosis, but are helpful in demonstrating the abnormal bone metabolism. The authors report the first whole-body bone images in a patient with craniometaphyseal dysplasia, demonstrating the abnormal bone activity over time.

Ｐｙｌｅ’ｓ ｄｉｓｅａｓｅ例

Craniometaphyseal dysplasia is a rare congenital disorder in which marked sclerosis and hypostosis of the craniofacial skeleton are associated with abnormal modeling of the metaphyses of the long bones. The disorder was first reported by Pyle in 1931 as “a case of unusual bone development”. Only a few cases have been reported in the literature. The present paper describes otolaryngological features observed in a case of Pyle's disease. An 8-year-old boy developed symptoms of progressive visual and hearing loss due to bony impingement on the cranial foramen and the Eustachian tube. Radiographic examinations showed marked sclerosis of the base of the skull and underdevelopment of the paranasal sinuses and mastoids. Although otolaryngological manifestations are rare, we need to keep this disease in mind in order to prevent hearing deterioration by surgical intervention at an early stage.

Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.

Sclerosing bone dysplasias ? a target-site approach

Sclerosing bone dysplasias are a poorly understood group of developmental anomalies, much of whose etiology is still obscure. The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. There are instances in which two or more of the above disorders coexist. These are termed "overlap syndromes", most commonly involving osteopathia striata, osteopoikilosis, and melorheostosis. A classification of these dysplasias is elaborated based on a targetsite approach that views them as disturbances in development associated with the processes of either endochondral or intramembranous bone formation, or both. Accumulated evidence suggests that many of these disorders stem from common defects in bone resorption and/or formation during the processes of skeletal maturation and modeling. Finally, the subgroup of overlap syndromes is emphasized as indicating a strong interrelationship between the sclerosing dysplasias of bone, with perhaps a common pathogenesis for many.

Radiographic features of craniometadiaphyseal dysplasia, wormian bone type

We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this is probably a genetically determined condition with an autosomal recessive type of transmission. The findings in the siblings are compared with those of a woman with the same condition, previously reported as an example of craniometaphyseal dysplasia. The combination of findings in these patients seems diagnostic: characteristic skull changes including multiple wormian bones; wide long tubular bones without normal metaphyseal flaring; wide short tubular bones without normal diaphyseal constriction and sometimes actual diaphyseal expansion; and wide ribs and clavicles.

Dominant craniometaphyseal dysplasia--a family study over five generations.

A two month old male infant being investigated for nasal obstruction was noted to have the typical facies and radiological changes of craniometaphyseal dysplasia. Investigation of the family detected 9 individuals in 4 generations with radiological evidence of craniometaphyseal dysplasia. Their ages ranged from 2 months to 70 years. Three presented with nasal obstruction, one with facial nerve dysfunction and three had developed deafness in or before their third decade. Two were asymptomatic. One family member, now dead, was known to have had early onset of deafness but had not been examined or X-rayed. All of the affected individuals were noted to have had the typical facies in childhood. Characteristic radiological findings in the cranium and long bones were present to a varying degree and were most prominent in those presenting in infancy.

Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: Therapeutic effect of calcitonin

2. Beighton P, Hamersma, Horan F. Craniometaphyseal dysplasia: variability of expression within a large family. Clin Genet 1979;15:252-8. 3. Gorlin R J, Spranger J, Koszalka MF. Genetic craniotubular bone dysplasia and hypertoses: a critical analysis. Birth Defects 1969;4:79-95. 4. Rimoin DL, Woodruff SL, Holman BL. Craniometaphyseal dysplasia (Pyle's disease): autosomal dominant inheritance in a large kindred. Birth Defects 1969;4:299-303. 5. Conway HN, Anast CS. Double-antibody radioimmunoassay for parathyroid hormone. J Lab Clin Med 1974;83:129-38. 6. Prockop D J, Udenfriend A. A specific method for the analysis of hydroxyproline in tissues and urine. Anal Biochem 1960;1:228-39. 7. Annino JS. Clinical chemistry: principles and procedures, 3rd ed. Boston: Little; Brown, 1964:248-51. 8. Baron R, Gertner GM, Lang R, Vignery A. Increased bone turnover with decreased bone formation by osteoblasts in children with osteogenesis imperfecta. Pediatr Res 1983; 17:204-7. 9. Key L, Carnes D, Holtrop M, et al. Treatment of congenital oste0petrosis with high dose calcitriol. N Engl J Med 1984; 310:409-15. 10. Beighton P, Horan F, Hamersma H. A review of osteopetroses. Postgrad Med J 1977;53:507-15. 11. Penchaszadeh VB, Gutierrez ER, Figueroa EP. Autosomal recessive craniometaphyseal dysplasia. Am J Med Genet 1980;5:43-55. 12. Schwarz, E. Craniometaphyseal dysplasia. A JR 1960;84:4616. 13. Girdwood TG, Gibson WJA, Mackintosh TF. Craniometaphyseal dysplasia: congenital Pyle's disease in a young child. Br J Radiol 1969;42:299-303. 14. Halliday J. A rare case of bone dystrophy. Br J Surg 1949; 37:52-63. 15. Norman AW. Vitamin D: the calcium hosmeostatic steroid hormone. New York: Academic Press, 1977. 16. Aarskog D, Aksnes L, Markestad T. Effect of parathyroid hormone on vitamin D metabolism in osteopetrosis. Pediatrics 1981i68:109-12.

Treatment of craniometaphyseal dysplasia with calcitriol

Treatment of craniometaphyseal dysplasia with calcitriol

Otolaryngologic Features of Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia, one of several rare familial systemic bone disorders of the osteopetrosis bone-disease group, is characterized by abnormal bony thickening of the skull and multiple cranial neuropathies. Hearing loss, commonly of a mixed type, is the usual symptom presented to the otolaryngologist—head and neck surgeon; however, recurring facial paralysis, blindness, and atypical fades may also be noted. A case of bilateral facial nerve dysfunction in a neonate, the offspring of a thoroughly studied kindred with known craniometaphyseal dysplasia, Is presented. The clinical and radiographic features of the disorder are discussed, including an outline of the operative management of facial paralysis.

Craniometaphyseal dysplasia associated with hydrocephalus

Craniometaphyseal dysplasia associated with hydrocephalus

Cervical spinal deformity in craniometaphyseal dysplasia

A child with craniometaphyseal dysplasia had the presenting symptoms of progressive quadriparesis. She exhibited proportionate tall stature, peculiar face with craniomegaly, genu valgum, and 46,XX,t(12;18)(q13;q12) chromosome aberration. Delayed physical development and mild mental retardation were also present. Subluxation of C-2 on C-3 and kyphosis of the cervical spine, and myelographic blockage at this level were noted. Treatment consisted of fusion of the C-2 to C5-6 vertebra following laminectomies of C-3 and C-4 with satisfactory results. Early detection and surgery for cervical spine deformity and cord compression are necessary to prevent profound neurological deficits in this disorder.

Optic atrophy and visual loss in craniometaphyseal dysplasia

Optic atrophy and visual loss in craniometaphyseal dysplasia

Optic Atrophy and Visual Loss in Craniometaphyseal Dysplasia

Four members of one family had craniometaphyseal dysplasia. Two of the four had severe optic atrophy with profound loss of vision as a complication of this disorder. Optic nerve decompression attempted in one patient may have caused a reduction in the vision of that eye. Eight years later this patient underwent craniofacial surgery uneventfully for contouring of her facial and cranial bones, but osteotomies and intracranial surgery were specifically avoided because of bony over-growth in the foramen magnum region.

Autosomal recessive craniometaphyseal dysplasia.

AbstractThe autosomal recessive form of craniometaphyseal dysplasia was ascertained in two sibships with two affected individuals each. All four parents were normal and in one case they were consanguineous; both families were living in Caracas but had their origins in Tenerife Island (Canary Islands), although no genealogic link between them could be established. The age of the patients ranged from 6 to 14 years and the main clinical alterations were a thick bony wedge over the bridge of the nose, dystopia canthorum, ocular hypertelorism, enlarged malar prominences and mandible, wide alveolar ridges, dental abnormalities, and genu valgum; narrowing of the nasal passages led to mouth breathing. A slight, mixed hypoacusia was present in two patients; no other signs of cranial nerve involvement were detected. The cardinal radiographic features were hyperostosis and sclerosis of the calvarium, the base of the skull, and the facial bones and mandible; increased bone deposition on the walls of the paranasal sinuses; under‐pneumatization of mastoid cells; cortical hyperostosis of the diaphyses of the short and long tubular bones, and gradual, club‐shaped widening of the metaphyses, which had thin cortex and undermineralized medullary bone. The clinical and radiologic alterations had an increasing gradient of severity with age. The phenotype of recessive craniometaphyseal dysplasia is not clearly differentiated from the dominant form but easily so from two other recessive conditions with which it was formerly confused: Pyle disease and craniodiaphyseal dysplasia.

Craniometaphyseal dysplasia ‐variability of expression within a large family

Fifteen individuals in five generations of a kindred with branches in South Africa and England had the autosomal dominant form of craniometaphyseal dysplasia. The majority of affected adults had mild to moderate mandibular distortion, while paranasal bossing was a transient manifestation in childhood. Facial palsy with onset in childhood was present either unilaterally or bilaterally in about 30% of the patients, while 50% had auditory dysfunction which varied from mild impairment of hearing to total deafness. Stature and intellect were normal, and bone fragility, osteomyelitis and dyshaemopoesis were not features of the condition. Five other potentially affected family members had deafness or facial palsy of uncertain aetiology in the absence of other stigmata of CMD. It is uncertain whether these complications represent minor degrees of phenotypic expression of the abnormal gene.

"Osteopetrosis" in the Fairbank Collection

The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.

A review of the osteopetroses

The osteopetroses are a group of conditions which are characterized by varying combinations of bony sclerosis and modelling defects. Classical osteopetrosis may be inherited as an autosomal dominant or autosomal recessive: the former variety is benign, heterogeneous and comparatively common, while the latter is precocious, potentially lethal and rare. Many other craniotubular dysplasias and hyperostoses are loosely grouped with the osteopetroses. The commonest of these is the autosomal dominant form of craniometaphyseal dysplasia, while the others which are well known include Pyle disease, and van Buchem disease. Sclerosteosis is a progressive condition in which massive cranial thickening is associated with syndactyly and gigantism. Each of these disorders has specific clinical and radiographic features, which permit recognition. Diagnostic accuracy is crucial for treatment, prognostication and effective genetic management.

Craniometaphyseal dysplasia: Report of a case

Craniometaphyseal dysplasia, often referred to as Pyle's disease, is a hereditary disease involving the expansion of the metaphyses of the long bones, giving the appearance of an Erlenmeyer flask. There is diffuse hyperostosis of the entire cranial vault, along with absence or decreased development of the paranasal sinuses. In the case presented here the mouth demonstrated an abnormally wide maxilla with a slight palatal vault. Genetically, this appeared to be a dominant form of dysplasia.

The skull in metaphyseal chondrodysplasia type Jansen.

For some reasons skull findings in Jansen's Metaphyseal Dysplasia have been largely neglected. A survey of the seven known cases (three of them being primarily observed and described by two of the authors) disclose important and constant alterations, namely pronounced basilar thickening and sclerosis, prominent supraorbital and zygomatic arches, underdevelopment of the paranasal sinuses with sclerosis of the adjacent bone, and hypoplasia of the mandible. These alterations give rise to distinct and fairly specific features. The relationship to other craniotubular disorders, such as craniodiaphyseal dysplasia, craniometaphyseal dysplasia, and frontometaphyseal dysplasia is discussed.

Craniometaphyseal dysplasia: A case report and review of the literature

The clinical, radiological, haematological and histological findings are described in a young female patient with craniometaphyseal dysplasia. The importance to the oral surgeon of difficulties with exodontia and the subsequent normal healing are drawn attention to, while the conditions to be considered in the differential diagnosis are discussed. The relevant literature is reviewed with special emphasis on the classification and various clinico-radiological findings