Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother

Kaissi, Ali Al; Csepan, Robert; Hofstaetter, Jochen G.; Klaushofer, Klaus; Rudolf, G.; Grill, Franz

doi:10.6061/clinics/2012(12)26

Cited by 4 publications

(2 citation statements)

References 9 publications

(7 reference statements)

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“… 17 X-ray examination shows obvious thickening of the metaphyseal cortex, widespread osteosclerosis and hyperplasia of the craniofacial bone and the limb long bone, and frequent involvement of the vertebrae. 18 Stem epiphyseal end dysplasia (metaphyseal dysplasia) is a congenital and familial bone dysplasia. 19 Its clinical manifestations include the following: knock knees, mild limited elbow extension, no tenderness of the wider metaphysis and wider collarbone, mandibular protrusion, dental caries and disordered tooth arrangement.…”

Section: Discussionmentioning

confidence: 99%

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Wu¹,

Chen

2022

J Int Med Res

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This current case report describes two rare cases of children with both hearing loss and snoring. Case 1, a 17-month-old male patient, and case 2, an 11-year-old male patient, both presented with nasal obstruction, snoring and hearing loss. Physical examinations showed obvious enlargement of the head circumference and special facial features. The two children underwent otolaryngology examinations, endoscopy, hearing tests, laboratory examinations for bone metabolism markers, cranial computed tomography, X-rays and genome-wide exon sequencing. The first case was diagnosed with craniometaphyseal dysplasia, which was relieved after giving a low-calcium diet. The second case was diagnosed with osteopathia striata with cranial sclerosis by gene sequencing. Snoring improved after medication and the speech and quality of life improved with a hearing aid. Paediatric otolaryngological physicians need to have a deeper understanding of congenital diseases involving the bones. Only by genetic testing to determine the pathogenesis can those children be given the correct treatment, which is of great importance for improving their prognosis.

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Section: Discussionmentioning

confidence: 99%

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Wu¹,

Chen

2022

J Int Med Res

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“…The diaphyses of the long bones show a cylindrical appearance with cortical thickening and narrowed medullary cavity. The ribs and clavicle are enlarged, and the tubular bones of the hands and feet are also involved (Kaissi et al, 2012). The preserved facial bones and lower jaw of the skeleton from Alghero display no signs of leonine face; the mature age of this individual also speaks against this diagnosis.…”

Section: Differential Diagnosismentioning

confidence: 98%

Sclerosing Bone Dysplasia from 16^th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease

Giuffra

Montella

Bianucci

et al. 2016

Intl J of Osteoarchaeology

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The skeletal remains of a male aged 45-55 years displaying several bone anomalies were unearthed from the Alghero (Sardinia) plague cemetery 'lo Quarter', a burial site dating back to the 1582-1583 AD outbreak. The skeleton, whose stature is about 165 cm, presents a bilateral hyperostosis with increased diameter of the diaphyses of all the long bones of the upper and lower limbs; the metaphyses appear to be involved, while the epiphyses are spared. Marked thickening of the cranial vault is also evident. Radiological study showed irregular cortical thickening and massive endoperiosteal bone apposition; sclerotic changes are observed in the diaphysis of some metacarpals. Computed tomography (CT) cross sections of the long bones displayed a thickening of the cortical portion and endoperiosteal bone apposition. The individual was affected by a sclerosing bone dysplasia, a genetic disease characterized by increased bone density. In differential diagnosis, several sclerosing bone dysplasia, such as hyperostosis corticalis generalisata, craniodiaphyseal dysplasia, craniometadiaphyseal dysplasia, pachydermoperiostosis and Camurati-Engelmann disease, as well as other disorders characterized by sclerosing manifestations, such as Erdheim-Chester disease, mehloreostosis and skeletal fluorosis, need to be considered. The anomalies observed in skeleton 2179 fit with the features of Camurati-Engelmann disease, which is the most likely candidate for final diagnosis. It is highly challenging to evaluate how such a condition may have influenced the individual's lifestyle in terms of development, mobility and quality of life. This individual was probably symptomatic and must have experienced common clinical symptoms, such as pain in the limbs and fatigability. However, the strong development of the muscular insertions and the degenerative changes in the upper limbs suggest that the mobility problems should not have prevented him from reaching a mature age and from performing essential daily activities.The presented case is the unique paleopathological evidence of Camurati-Engelmann disease so far diagnosed.

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A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

Hendrickx¹,

Boudin²,

Steenackers³

et al. 2023

Bone

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Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother

Cited by 4 publications

References 9 publications

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Sclerosing Bone Dysplasia from 16^th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

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Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother

Cited by 4 publications

References 9 publications

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Sclerosing Bone Dysplasia from 16th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

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Sclerosing Bone Dysplasia from 16^th Century Sardinia (Italy): A Possible Case of Camurati–Engelmann Disease