Case ReportOtofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders
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.
References (8)
- et al.
Familial oto-facio-cervical dysmorphia
Acta Chir. Orthop. Traumatol. Cech.
(1967) - et al.
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
J. Med. Genet.
(1995) - et al.
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM
Hum. Genet.
(2001) - et al.
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome
Ann. Hum. Genet.
(2005)