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Metaphyseal dysplasia, Spahr type: a mimicker of rickets.

ABSTRACT: Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.

SUBMITTER: Balasubramaniyan M

PROVIDER: S-EPMC6700560 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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Metaphyseal dysplasia, Spahr type: a mimicker of rickets.

Balasubramaniyan Muthuvel M Kaur Anupriya A Sinha Anindita A Gopinathan Nirmal Raj NR

BMJ case reports 20190813 8

Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skel ...[more]

PMID: 31413057

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Project description:IntroductionMetaphyseal dysplasia describes a heterogenous group of skeletal dysplasias with varying inheritance patterns, which preferentially demonstrate dysplastic changes within the metaphyseal region of long bones. The clinical consequences of these dysplastic changes are highly variable, but most uniformly include decreased stature, increased upper-to-lower segment proportions, genu varus, and knee pain. Metaphyseal dysplasia, Spahr type (MDST) [MIM: 250400] is a rare primary bone dysplasia that was first clinically described in 1961 in four of five siblings with moderate short stature, metaphyseal dysplasia, mild genu vara, and no biochemical signs of rickets. For many decades, MDST was a clinical diagnosis, but the underlying genetic etiology was determined to be due to biallelic pathogenic variants in matrix metalloproteinases 13 [MIM: 600108] in 2014. Clinical case reports of this disease are limited; this paper aims to present the clinical manifestations and treatment for 3 Filipino siblings with a confirmed of MDST.Case reportPatient 1 presented at age 8 for medial ankle pain and bilateral lower extremity bowing of several years. Radiographs showed bilateral metaphyseal irregularities, and the patient underwent bilateral lateral distal femoral and proximal tibial physeal tethering at 9 years 11 months. At 16 months post tethering, she reports reduced pain although varus deformity persists. Patient 2 presented to clinic at age 6 for concern of bilateral bowing. He has had no reported pain and demonstrates milder metaphyseal irregularities than patient 1 on radiographs. To date, patient 2 has no significant changes or gross deformity. Patient 3 examined at 19 months without observable deformity.ConclusionSuspicion for MDST should be elevated in the setting of short-stature, upper-to-lower segment disproportionality, focal metaphyseal irregularities, and normal biochemical presentation. At present, no standard of care exists for treatment of patients with these deformities. Further, identification and evaluation of impacted patients are needed to progressively optimize management.

Project description:Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can elucidate mechanisms of common disorders and identify potential therapeutic targets. Methods: We evaluated a family pedigree with craniometadiaphyseal dysplasia (CRMDD, OMIM 269300), a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and absent of normal metaphyseal flaring and diaphyseal constriction. Systemic radiographic examination and serum hormone test were made for this rare disease. One patient and her two normal parents were examined by means of whole-exome sequencing (WES) to identify the candidate pathogenic gene and rule out mucopolysaccharidosis and Prader-Willi Syndrome by means of Sanger sequencing. Results: There are several conspicuous radiographic characteristics: (1) bullet-shaped phalanges, (2) long and narrow pelvic inlet, absent of supra-acetabular constriction, (3) round rod-shaped long tubular bones, (4) prominent aiploic mastoid, (5) bending-shaped limb, genua varus and genu varum, and (6) congenital dislocation of elbow. Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively. Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.

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Metaphyseal dysplasia, Spahr type: a mimicker of rickets.

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Metaphyseal dysplasia, Spahr type: a mimicker of rickets.

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