title: Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.
abstract: BACKGROUND
  Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes.
  
  
  METHODS
  A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal β-C-terminal telopeptide of type I collagen (β-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9.
  
  
  CONCLUSIONS
  Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wu
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
authors.forename: Ou
authors.initials: O
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Xing
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China. Electronic address: xiaweibo@medmail.com.cn.
authors.forename: Wei-Bo
authors.initials: WB
authors.lastname: Xia
mesh_terms: D000469:Alkaline Phosphatase / Q000378:metabolism; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D015576:Hyperostosis / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D006972:Hypertelorism / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D006996:Hypocalcemia / Q000150:complications; D017674:Hypophosphatemia / Q000150:complications; D007223:Infant; D008297:Male; D009154:Mutation; D010281:Parathyroid Hormone / Q000378:metabolism; D010375:Pedigree; D028061:Phosphate Transport Proteins / Q000235:genetics; D012279:Rickets / Q000150:complications*
chemical_list: C498770:ANKH protein, human; D010281:Parathyroid Hormone; D028061:Phosphate Transport Proteins; D000469:Alkaline Phosphatase
keywords: ANKH; Biochemical test; Craniometaphyseal dysplasia; Gene mutation