Santana HEE, Tamayo CVJ

Language: Spanish
References: 10
Page: 629-634
PDF size: 356.05 Kb.

ABSTRACT

Background: methaphyseal chondrodysplasia is a type of non-frequent bone dysplasia. It is characterized by short stature, genu varum, small pelvis, progressive kyphoscoliosis, wrist deformities, myopia, short long bones and serious methaphyseal dysplasia with moderate changes in the back and minimal changes in hands and feet.
Objective: to present the case of a patient with the diagnosis of bone dysplasia treated by a multidisciplinary medical team for a subsequent surgical correction.
Clinical case: a three-year-old female patient with a deformity in the lower limbs that causes short stature by genu varum. There was no information of interest in the family medical history. The medical history of the patient showed a normal prenatal, perinatal and postnatal development until she turned 16 months old and started to walk presenting a slight deformity that increased.
Conclusions: Schmid methaphyseal chondrodysplasia is an uncommon hereditary disease with a dominant autosomal heredity pattern. Since no other member in the family was affected, there was a De novo mutation in this case. It is necessary to search for its presence in a patient with a serious deformity in the lower limbs with normal biochemical and renal studies. It is important to make an early diagnosis as well as to carry out a treatment and a multidisciplinary follow-up to correct the deformity by means of surgical treatment.

REFERENCES

1. Beluffi G, Fiori P, Schifino A, Notarangelo LD, Giardini D, Bozzola M, Montanari C, Martini A. Metaphyseal dysplasia, type Schmid. Prog Clin Biol Res. 1982;104:103-10.

2. Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, et al. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity. J Bone Miner Res. 1997 Aug;12(8):1204-9.

3. Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, et al. A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodys-plasia. J Hum Genet. 2000;45(2):105-8.

4. Elliott AM, Field FM, Rimoin DL, Lachman RS. Hand involvement in Schmid metaphyseal chondrodysplasia. Am J Med Genet A. 2005 Jan 15;132A(2):191-3.

5. Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, et al. A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid. Clin Chim Acta. 2011 Jun 11;412(13-14):1266-9.

6. Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, et al. MMP13 mutations are the cause of recessive met-aphyseal dysplasia, Spahr type. Am J Med Genet A. 2014 May;164A(5):1175-9.

7. Hu X, Zhang X, Li Y, Lou P, Li X, Jiang L. A novel COL10A1 mutation in a Chinese pedi-gree with Schmid type metaphyseal chon-drodysplasia. Clin Lab. 2015;61(3-4):227-33.

8. Park H, Hong S, Cho SI, Cho TJ, Choi IH, Jin DK, et al. Case of mild Schmid-type metaph-yseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. Eur J Med Genet. 2015 Mar;58(3):175-9.

9. Stevens PM, Novais EN. Multilevel guided growth for hip and knee varus secondary to chondro-dysplasia. Pediatr Orthop. 2012 Sep; 32(6):626-30.

10. Kung LH, Rajpar MH, Briggs MD, Boot-Handford RP. Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response. J Histochem Cytochem. 2012 Oct;60(10):734-48.