Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access
Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc
Journal website http://www.jofem.org

Case Report

Volume 9, Number 5, October 2019, pages 165-170

Metatropic Dysplasia: A Description of a Newborn With Suspected Epiphyseal Dysplasia

Figures

Figure 1.
Figure 1. Lower and upper limbs, extremely short long bones, resembling dumbbells, metaphyseal flaring, and hypoplasia of ilium shafts.
Figure 2.
Figure 2. Spine: thin, rounded vertebral bodies, significant narrowing in the dorsal part (platyspondylia), and remaining coccyx.
Figure 3.
Figure 3. Chest: narrow and elongated chest with short ribs.

Tables

Table 1. Calcium-Phosphate Metabolism Assessment in Blood Serum
 
Parameter/dateCa (mg/dL)P (mg/dL)Vitamin D3 25(OH) (ng/mL)Vitamin D3 1,25 (OH)2 (pg/mL)PTH (pg/mL)Alkaline phosphatase (U/L)
aAbnormal results. PTH: parathyroid hormone.
April 4, 201810.005.4014.3a106.00a-215
April 23, 2018----92.20a-
May 14, 2018----35.70-
Ranges7.60 - 10.404.65 - 8.06> 3025.00 - 86.5015.0 - 68.348 - 406

 

Table 2. Urine Markers (sample II)
 
Examination dateCa/creatinineP/creatinineMg/creatininePyrylinx D (nmol/mmol)
aAbnormal results.
April 4, 20180.242.86a0.36278.17a
April 23, 20181.1a-0.785a-
Ranges0 - 6 months of life: < 0.8< 1 year: 0.3 - 1.20.11 - 0.31Before pubescence: 13.4 - 60.4

 

Table 3. Anthropometric Measurements
 
Date of measurement/parameterBody weight (kg)Body length (cm)Head circumference (cm)
March 30, 20182.8005334
April 23, 20183.668--