Case Report
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders

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Abstract

Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS.

Introduction

Otofaciocervical syndrome (OFCS, OMIM 166780) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome (BORS, OMIM 113650) can be difficult [1], [2], [3], [4], [5], [6]; in addition, contiguous gene deletions or mutations in EYA1 gene (locus 8q13) have been identified in both disorders [3], [4], [5]. Recently, a homozygous mutation in PAX1 gene (locus 20p11) has been related to an autosomal recessive type of OFCS. Distinctive features of OFCS are specific skeletal anomalies and absence of renal involvement [7]. On the other hand, metachondromatosis is a rare disorder involving the formation of enchondromas and osteochondromas due to loss of function of PTPN11 tumor suppressor gene (locus 12q24) [8]. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders.

Section snippets

Case report

A Mexican female was the second daughter of healthy, non-consanguineous parents aged 23 (mother) and 31 (father). The family history was unremarkable for deafness, branchial or renal anomalies, as well as MCA/RM syndromes. The patient was born at the 38th week of gestation by cesarean delivery after an uneventful pregnancy; her Apgar scores were 8 and 9, birth weight was 2820 g, length 47 cm, and head circumference 32 cm (all in the 15th centile). Her psychomotor development was delayed: head

Discussion

Although the patient exhibited clear features of BORS, her musculoskeletal anomalies and intellectual disability/psychomotor delay led to the diagnosis of OFCS. Significantly, the patient also showed a radiological pattern seen in metachondromatosis. Such a novel association recalls the co-occurrence of OFCS with either neurofibromatosis type 1 or selective deficiency of IgA [3], [4].

Phenotypic overlapping in branchial-arch disorders is significant. It has been pointed out that distinctive

Conflicts of interest

None.

Acknowledgement

The authors would like to thank Dr Horacio Rivera for his critical review of the manuscript.

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