Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II

Karatas, Ali F.; Bober, Michael B.; Rogers, Kenneth; Duker, Angela L.; Ditro, Colleen; Mackenzie, William G.

doi:10.1097/bpo.0000000000000183

Cited by 11 publications

(13 citation statements)

References 27 publications

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“…These observations were very much in keeping with the description by Hall et al [ 39 ••]. It is hypothesized that as the epiphyses begin to manifest, the femoral head is small and hypoplastic and begins to slip down along the femoral shaft leading to a progressive coxa vara [ 39 ••, 58 ••]. Once the initial coxa vara was observed in children between 2 and 5 years of age, the slipping progressed rapidly to become severe within 6 to 10 months.…”

Section: Introductionsupporting

confidence: 81%

“…One patient had bilateral hip dysplasia and subluxation. One patient had coxa valga with subluxation of the right hip and degenerative arthritis of the left hip, one had developmental hip dislocation, and one patient had bilateral AVN of the hips [ 58 ••]. These observations were very much in keeping with the description by Hall et al [ 39 ••].…”

Section: Introductionsupporting

confidence: 74%

“…In general, the long bones are thin, with progressive widening of the metaphyses. There is epiphyseal ossification delay, dislocation, or subluxation of the radial heads and hips and small iliac wings with flat acetabular angles [ 4 •, 39 ••, 58 ••]. Mesomelia, most significantly in the upper extremity, can be seen in infancy and becomes more apparent over time [ 4 •, 39 ••].…”

Section: Introductionmentioning

confidence: 99%

“…The most detailed study of MOPDII hips was done by Karatas et al and published in 2014 [ 58 ••]. They reviewed radiographic and clinical records of 12 patients with molecularly confirmed MOPDII.…”

Section: Introductionmentioning

confidence: 99%

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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Bober

Jackson

2017

Curr Osteoporos Rep

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Purpose of the ReviewThis review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII).Recent FindingsOver the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII.SummaryMOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.

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Section: Introductionsupporting

confidence: 81%

Section: Introductionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Bober

Jackson

2017

Curr Osteoporos Rep

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“…Microcephalic osteodysplastic primordial dwarfism type II (MOPDII; OMIM #210720), first described by Majewski, Ranke, and Schinzel (), is the most common distinctive diagnostic entity within the group of microcephalic primordial dwarfism syndromes (Hall, Flora, Scott, Pauli, & Tanaka, ; Klingseisen & Jackson, ; Rauch, ). Aside from the classic features of severe pre‐ and post‐natal growth failure together with microcephaly, individuals with MOPDII have a characteristic skeletal dysplasia (Hall et al, ; Willems et al, ) with a specific hip pathology (Karatas et al, ), abnormal dentition (Kantaputra et al, ), an increased risk for cerebrovascular disease (Bober et al, ; Brancati, Castori, Mingarelli, & Dallapiccola, ; Waldron et al, ), and insulin resistance (Huang‐Doran et al, ). MOPDII has autosomal recessive inheritance and is caused by mutations in the pericentrin ( PCNT ) gene (Rauch et al, ).…”

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confidence: 99%

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II

Duker

Niiler

Bober

2017

American J of Med Genetics Pt A

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demonstrate, the expected weight gain of a child with MOPDII hovers around two grams per day throughout their childhood. Though this is a dramatically different pattern when compared to a typical infant/child's weight gain, it should not be entirely unexpected given the underlying etiology of MOPDII, which is caused by loss of function of pericentrin.This leads to abnormal mitosis resulting in reduction in cell number and thus a rate-limiting step for growth (Klingseisen & Jackson, 2011).Limitations to this study include our differing weight data points per age, with more points available in the first two years of life compared to older ages. However, as questions regarding the nutritional needs, and possible surgical management, of children with this diagnosis are more pressing in infancy, we feel this analysis is robust in the time frame in question. Empirically, we have noted truncal obesity start to develop in the teenage years, which could explain the identified uptick in expected grams/day in this age-range.Overall, we are hopeful this average ∼2 grams per day expectation, combined with our previously published typical growth curves, can optimize nutritional management of children with MOPDII. ACKNOWLEDGMENTSThis work is supported in part by the Potentials Foundation, and the Walking with Giants Foundation. We thank all of the families who participate in the Primordial Registry at the Alfred I. duPont Hospital for Children. This work would not be possible without their contributions.We would like to thank Tara Ketterer and Grant Eldridge, who helped transfer growth points into the registry database, our dysplasia research coordinator Cassie Brown, and our collaborators who contributed to our previous analysis of growth in MOPDII:

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A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

Liu

Wang

et al. 2021

Molec Gen & Gen Med

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Background Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre‐ and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene. Methods We evaluated the clinical features of a 10‐year and 7‐month‐old Chinese girl with MOPD II. Subsequently, next‐generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. Results The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin‐like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient. Conclusion Our study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II.

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Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II

Abstract: Level IV.

Cited by 11 publications

References 27 publications

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

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