Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

Abstract

Craniometaphyseal dysplasia is a rare congenital disorder that can cause craniofacial skeleton and tubular bone anomalies. A 7-month-old girl, with congenital facial palsy, mouth breathing, and nasal obstruction, was brought to the hospital because she suffered sudden cardiopulmonary arrest. Computed tomography showed bony narrowing of the choanae. The diagnosis was cardiopulmonary arrest triggered by asphyxia caused by severe choanal stenosis. She showed hypoxic encephalopathy and underwent a tracheotomy and an operation to enlarge choanae. When a neonate or young infant shows signs of nasal obstruction, physicians should aggressively search for and consider the possibility of choanal atresia or severe stenosis.

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia

“…The diagnosis of CMD was made based on the clinical expression (hypertelorism, frontonasal bossing, facial nerve palsy and bony choanal stenosis) and radiographs of the cranial and long bones (Fig. a–c) …”

“…1a-c). 4 To identify the ANKH mutation in this patient, we performed gene analysis using a blood sample. The DNA extracted from white blood cells was polymerase chain reaction (PCR) amplified and sequenced for all 12 exons of the ANKH gene.…”

Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

“…Elevation of serum alkaline phosphatase activity has been noted in some cases of CMD ( Cheung et al, 1997 ; Chida et al, 2011 ; Dutra et al, 2012 ; Fanconi et al, 1988 ; Key Jr et al, 1988 ; Richards et al, 1996 ; Sheppard et al, 2003 ; Wu et al, 2016 ; Wu et al, 2021 ; Yamamoto et al, 1993 ). Less frequently, elevations in circulating PTH, hypocalcemia ( Fanconi et al, 1988 ; Sheppard et al, 2003 ), and hypophosphatemia ( Dutra et al, 2012 ; Fanconi et al, 1988 ; Wu et al, 2016 ) have been observed, with concomitant radiographic findings of rickets ( Fanconi et al, 1988 ; Wu et al, 2016 ).…”