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Microcephalic Osteodysplastic Primordial Dwarfism Type II

MOPD Type 2


Presentation

  • The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center.[ncbi.nlm.nih.gov]
  • We present an 18-month-old Pakistani girl who had short stature, craniofacial dysmorphism, and multiple café-au-lait spots. After consultation with the geneticists, microcephalic osteodysplastic primordial dwarfism type II was diagnosed (MIM210720).[ncbi.nlm.nih.gov]
  • In this case report, we present a case with an association between microcephalic osteodysplastic primordial dwarfism type II and schizophrenia.[ncbi.nlm.nih.gov]
  • We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye.[ncbi.nlm.nih.gov]
  • Marked hirsutism was present in male pattern of distribution.[journals.aace.com]
Proportionate Short Stature
  • Abstract Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature[ncbi.nlm.nih.gov]
  • It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO) Microcephalic Osteodysplastic Primordial Dwarfism, Type III[rgd.mcw.edu]
  • It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. Term Browser Genes (2) Models (1) Disease References using Mouse Models (1)[informatics.jax.org]
  • It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. ( 2 ) References: ICD10CM:Q87.1 OMIM:210720 ORDO:2637 Ontology: Human Disease ( DOID:0060609 ) OTHER microcephalic osteodysplastic primordial[zfin.org]
  • short stature, and microcephaly.[bioportal.bioontology.org]
Cafe-Au-Lait Spots
  • The Lon-don Dysmorphology Database (5) describes 25 con-ditions which have cafe-au-lait spots, short stature,and microcephaly. The most common condition inwhich cafe-au-lait spots are seen is neurobromatosis,but this is associated with macrocephaly.[documents.tips]
  • There were areas of hypo- and hyperpigmentation, cutis marmorata, and few cafe au lait spots on skin. Parents were first-degree cousins.[jcrpe.org]
  • 0000293 Hypopigmented skin patches Patchy loss of skin color 0001053 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait[rarediseases.info.nih.gov]
Hypopigmented Skin
  • skin patches Patchy loss of skin color 0001053 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait spots[rarediseases.info.nih.gov]
Eczema
  • To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome.[ncbi.nlm.nih.gov]
  • Abstract To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome.[zora.uzh.ch]
  • Cardiology and Intensive Care Medicine, University Hospital, Georg-August University Göttingen, Robert-Koch Str. 40, 37075, Göttingen, Germany, Unlabelled : To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema[pubfacts.com]
Narrow Nose
  • We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate[ncbi.nlm.nih.gov]
  • Case presentation We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis[jmedicalcasereports.biomedcentral.com]
Papilledema
  • Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema.[ncbi.nlm.nih.gov]
Somnolence
  • Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema.[ncbi.nlm.nih.gov]

Treatment

  • After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. MOPD type II may have a wider range of expression than previously delineated.[ncbi.nlm.nih.gov]
  • This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis.[ncbi.nlm.nih.gov]
  • treatment articles: Treatments for Microcephaly Causes See also causal information: Causes of Microcephaly Similar Topic Articles Microcephaly Names and Terminology Other Names for This Condition Majewski osteodysplastic primordial dwarfism type II MOPD2[familydiagnosis.com]
  • After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment issupportive only. Prognosis The prognosis is poor with most of the reported patients dying within the first year of life. The documents contained in this web site are presented for information purposes only.[orpha.net]

Prognosis

  • Prognosis The prognosis is poor with most of the reported patients dying within the first year of life. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Life expectancy is generally decreased, but individuals live into their 30s. Many complications arise, but most can be handled by adapting modern medical techniques to the diminutive size.[orpha.net]
  • ., 4 patients with moyamoya disease were found to have cerebrovascular alterations at younger ages; patients with intracranial aneurysms in the posterior cerebral arteries, on the other hand, had a poorer prognosis due to severe chronic hypertension and[elsevier.es]
  • The prognosis is poor with most of the reported patients dying within the first year of life.[childnervoussystem.blogspot.com]
  • Prognosis - Microcephalic osteodysplastic primordial dwarfism- type 3 Not supplied. Treatment - Microcephalic osteodysplastic primordial dwarfism- type 3 Not supplied.[checkorphan.org]

Etiology

  • Etiology Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3).[orpha.net]
  • The average length, weight, and head occipitofrontal circumference (OFC) at birth are respectively 7.0, 3.9, and 4.6 SDs below the population mean (after correcting for gestational age Etiology MOPD II is caused by mutations in PCNT (21q22.3), encoding[orpha.net]
  • CM is a disorder of unknown etiology character-ized by a reticular violet-blue skin discoloration present sincebirth and is generally thought to be a mild condition.[docslide.com.br]
  • The etiology of hypertension is not well understood and may be due to renovascular causes or perhaps is centrally mediated [ 64 ].[link.springer.com]
  • Both precocious puberty and polycystic ovary syndrome are characteristics of severe insulin resistance, although they also have other etiologies.[diabetes.diabetesjournals.org]

Epidemiology

  • Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.[ncbi.nlm.nih.gov]
  • Multicentre study, aiming to determine morphological and epidemiological parameters and identify new symptoms in French patients with SCKL or MOPDII.[clinicaltrials.gov]
  • Summary Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far.[orpha.net]
  • The prevalence anddescriptive epidemiology of atopic dermatitis in Singaporeschool children. Br J Dermatol 2002;146:101106.5. Yura A, Shimizu T.[documents.tips]
  • Summary Epidemiology MOPDII is one of the most common forms of MPD and accounts for more than 150 cases worldwide.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • This achievement was a turning point to understand the pathophysiological role of genes mapping on this chromosome, providing unprecedented opportunities to elucidate the molecular mechanisms of monogenic disorders and genetic conditions related to single[bioinfo.na.iac.cnr.it]

Prevention

  • Presymptomatic detection and intervention could prevent the adverse consequences associated with this.[ncbi.nlm.nih.gov]
  • Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.[inclinicaltrials.com]
  • Long term follow up studies support the effective-ness of the procedure in preventing recurrent ischemic attacksby promoting revascularization [Isono et al., 2002].[docslide.com.br]
  • […] vascular system and abnormally tortuous arteries. 6 Given the close relationship between MOPD type II and cerebrovascular alterations, our case underscores the importance of conducting MRI or angiography screening tests annually in these patients to prevent[elsevier.es]
  • Several patients underwent in situ pinning to prevent severe permanent coxa vara deformity, with good results [ 58 ••].[link.springer.com]

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