Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction

Haverkamp, F.; Emons, D.; Straehler-Pohl, Hauke; Zerres, Klaus

doi:10.1016/0165-5876(95)01244-3

Cited by 12 publications

(7 citation statements)

References 10 publications

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“…Microscopic findings of bone demonstrate excessive subperiosteal bone formation, with high numbers of osteoblasts, few osteoclasts or osteocytes suggesting a failure of bone resorption [1,7]. Nasal obstruction has been previously reported in three cases of children ranging in age from 4 days to 2 months old presenting with inferior turbinate hypertrophy, choanal stenosis or a combination; two underwent surgery and one was treated conservatively [4,8,9], the details of which were not mentioned. Surgery for inferior turbinate hypertrophy has previously been reported in a 2 month old with a turbinectomy and a posterior septectomy.…”

Section: Discussionmentioning

confidence: 97%

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Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Twigg

Carr

Peres

et al. 2015

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 97%

“…Surgery for inferior turbinate hypertrophy has previously been reported in a 2 month old with a turbinectomy and a posterior septectomy. The nasal airway remained patent at 4 years post-op with no resulting morbidity [8].…”

Section: Discussionmentioning

confidence: 99%

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Twigg

Carr

Peres

et al. 2015

International Journal of Pediatric Otorhinolaryngology

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“…Treatment of severe cases of CMD is limited to surgical intervention to decompress obstructed foramina and to correct craniofacial structures. Treatment with calcitonin, which inhibits bone turnover, can correct biochemical abnormalities but has no effect on cranial hyperostosis (3,4) . Calcitriol, a stimulator of bone resorption, in combination with low calcium diet, can improve facial paralysis but has no effect on abnormal metaphyses (5) …”

Section: Introductionmentioning

confidence: 99%

“…Treatment with calcitonin, which inhibits bone turnover, can correct biochemical abnormalities but has no effect on cranial hyperostosis. (3,4) Calcitriol, a stimulator of bone resorption, in combination with low calcium diet, can improve facial paralysis but has no effect on abnormal metaphyses. (5) Knowledge of CMD pathoetiology is based on a few case reports, because there has been no animal model available.…”

Section: Introductionmentioning

confidence: 99%

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal Dysplasia

Chen

Wang

Strecker

et al. 2009

Journal of Bone and Mineral Research

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Craniometaphyseal dysplasia (CMD) is a monogenic human disorder characterized by thickening of craniofacial bones and flaring metaphyses of long bones. Mutations for autosomal dominant CMD have been identified in the progressive ankylosis gene ANKH. Previous studies of Ank loss-of-function models, Ank null/null and Ank ank/ank mice, suggest that Ank plays a role in the regulation of bone mineralization. However, the mechanism for Ank mutations leading to CMD remains unknown. We generated the first knockin (KI) mouse model for CMD expressing a human mutation (Phe377 deletion) in ANK. Homozygous Ank knockin mice (Ank KI/KI ) replicate many typical features of human CMD including hyperostosis of craniofacial bones, massive jawbones, decreased diameters of cranial foramina, obliteration of nasal sinuses, fusion of middle ear bones, and club-shaped femurs. In addition, Ank KI/KI mice have increased serum alkaline phosphatase and TRACP5b, as reported in CMD patients. Biochemical markers of bone formation and bone resorption, N-terminal propeptide of type I procollagen and type I collagen cross-linked C-terminal telopeptide, are significantly increased in Ank KI/KI mice, suggesting increased bone turnover. Interestingly, Ank KI/KI bone marrow-derived macrophage cultures show decreased osteoclastogenesis. Despite the hyperostotic phenotype, bone matrix in Ank KI/KI mice is hypomineralized and less mature, indicating that biomechanical properties of bones may be compromised by the Ank mutation. We believe this new mouse model will facilitate studies of skeletal abnormalities in CMD at cellular and molecular levels.

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“…ANK is a transmembrane protein transporting pyrophosphate, an inhibitor of mineralization. CMD can be diagnosed early in infancy due to difficulties with feeding and breathing caused by obstruction of the nasal lumen (Ramseyer et al, 1993;Haverkamp et al, 1996;Cheung et al, 1997). The spectrum of complaints of patients with CMD frequently includes hearing loss, visual disturbance or blindness, and facial palsy possibly due to neuronal compression (Beighton et al, 1979;Franz et al, 1996;Richards et al, 1996).…”

mentioning

confidence: 99%

Dental Anomalies Associated with Craniometaphyseal Dysplasia

et al. 2014

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Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual expansion of jawbones, more pronounced in mandibles than in maxillae. There was no measurable increase in bone density compared with that in unaffected individuals. Orthodontic cephalometric analysis showed that patients with CMD tend to have a short anterior cranial base, short upper facial height, and short maxillary length. Microcomputed tomography (micro-CT) analysis in homozygous Ank KI/KI mice, a model for CMD, showed that molars can be moved by orthodontic force without ankylosis, however, at a slower rate compared with those in wild-type Ank Based on these findings, recommendations for the dental treatment of patients with CMD are provided.

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Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction

Cited by 12 publications

References 10 publications

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal Dysplasia

Dental Anomalies Associated with Craniometaphyseal Dysplasia

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