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abnormal development (of organs or cells) or an abnormal structure resulting from such growth

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/25 10:59:53」(JST)

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Metaphyseal dysplasia, also known as Pyle's disease,^[1] Pyle's syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome^[2] is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures.

Clinical features

It is an autosomal recessive disorder in which mild clinical manifestations contrast with radiological appearances of gross metaphyseal undermodeling. Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. Patients may present with dental caries, mandibular prognathism, spinal alignment, and disproportionate limb lengthening. Mental development, physical development, and height are usually normal.^[3]

Misdiagnosis

Pyle disease may be confused with craniometaphyseal dysplasia. The two, however, are clinically, radiographically, and genetically distinct from one another.^[4]

Treatment

People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. Skeletal anomalies may require orthopedic surgery.^[5]

References

^ Pyle, Edwin (Oct 1, 1931). "A Case of unusual bone development". Journal of Bone and Joint Surgery (Needham, Massachusetts) 13 (4): 874–876. Retrieved Aug 18, 2009.
^ synd/1140 at Who Named It?
^ Syndrome of the month. Journal of Medical Genetics, 1987, 24, 321-322
^ The radiological manifestations of metaphyseal dysplasia (Pyle disease). The British Journal of Radiology, 1979, June, 52 (618) 431-40.
^ Syndrome of the month. Journal of Medical Genetics, 1987, 24, 323-324.

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UpToDate Contents

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1. Approach to the child with bow-legs
2. 小児におけるくる病の概要 overview of rickets in children
3. シュワッハマン・ダイアモンド症候群 shwachman diamond syndrome
4. 軟骨毛髪形成不全症 cartilage hair hypoplasia
5. 先天性好中球減少症 congenital neutropenia

English Journal

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonafé L1, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.Author information 1Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.AbstractMetaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis and nosologic status remained unknown. We followed up on those individuals and diagnosed the disorder in an additional member of the family. We used exome sequencing to ascertain the underlying mutation and explored its consequences on three-dimensional models of the affected protein. The MDST phenotype is associated with moderate short stature and knee pain in adults, while extra-skeletal complications are not observed. The sequencing showed that MDST segregated with a c.619T>G single nucleotide transversion in MMP13. The predicted non-conservative amino acid substitution, p.Trp207Gly, disrupts a crucial hydrogen bond in the calcium-binding region of the catalytic domain of the matrix metalloproteinase, MMP13. The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. Dominant MMP13 mutations have been associated with metaphyseal anadysplasia (OMIM 602111), while a single child homozygous for a MMP13 mutation had been previously diagnosed as "recessive metaphyseal anadysplasia," that we conclude is the same nosologic entity as MDST. Molecular confirmation of MDST allows distinction of it from dominant conditions (e.g., metaphyseal dysplasia, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as cartilage-hair hypoplasia; OMIM # 250250) and to give precise recurrence risks and prognosis. © 2014 Wiley Periodicals, Inc.
American journal of medical genetics. Part A.Am J Med Genet A.2014 Mar 19. doi: 10.1002/ajmg.a.36431. [Epub ahead of print]
Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. Its molecular basis and nosologic status remained unknown. We followed u
PMID 24648384

IMAGe Association: Report of Two Cases in Siblings with Adrenal Hypoplasia and Review of the Literature.

Phillips K1, Arroyo MR, Duckworth LV.Author information 1a University of Florida, Pathology, Immunology, and Laboratory Medicine.AbstractAbstract We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.Pediatr Dev Pathol.2014 Mar 11. [Epub ahead of print]
Abstract We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland i
PMID 24617583

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Kato F1, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.Author information 1Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.AbstractOBJECTIVE: Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is no other report describing clinical findings in patients with molecularly studied IMAGe syndrome. Here, we report clinical and molecular findings in Japanese patients.
Clinical endocrinology.Clin Endocrinol (Oxf).2013 Dec 7. doi: 10.1111/cen.12379. [Epub ahead of print]
OBJECTIVE: Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. However, there is n
PMID 24313804

Japanese Journal

Chiari Type I Malformation Caused by Craniometaphyseal Dysplasia

Tanaka Masato,Arataki Shinya,Sugimoto Yoshihisa,Takigawa Tomoyuki,Tetsunaga Tomoko,Ozaki Toshifumi
Acta Medica Okayama 67(6), 385-389, 2013-12
… Craniometaphyseal dysplasia is a rare genetic condition characterized by progressive thickening of bones in the skull and metaphyseal abnormalities in the long bones. … Chiari I malformation with craniometaphyseal dysplasia is extremely rare. … The authors report on a 25-year-old woman with myelopathy due to Chiari I malformation along with craniometaphyseal dysplasia. …
NAID 120005353349

Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography

Yamada Takahiro,Nishimura Gen,Nishida Keiichiro,Sawai Hideaki,Omatsu Tokuhiko,Kimura Taichi,Nishihara Hiroshi,Shono Rina,Shimada Shigeki,Morikawa Mamoru,Mizushima Masato,Yamada Takashi,Cho Kazutoshi,Tanaka Shinya,Shirato Hiroki,Minakami Hisanori
Journal of Obstetrics and Gynaecology Research 37(2), 151-155, 2011-02
… As accurate prenatal diagnosis of SRPs is helpful for parents, we used 3D-CT in the early third trimester to examine a fetus suggested to have phenotypes of "short-rib dysplasia group" on ultrasonography. … 3D-CT showed mild modification of the vertebral bodies, small ilia with horizontal acetabula and triangular partial ossification defects, and subtle metaphyseal irregularities of the femora. …
NAID 120005311807

Ki-67 Expression in benign fibro-osseous lesions: a comparative immunohistochemical study

Omer Gunhan,Armagan Gunal,Yildirim Karslioglu,Adnan Ozturk
Oral Medicine & Pathology 12(3), 85-88, 2008
… including fibrous dysplasia, osseous dysplasia and ossifying fibroma as well as their subgroups. …
NAID 130004509504