Temporal Bone Findings in a Case of Otopalatodigital Syndrome

Abstract

\s=b\The principal features of the otopalatodigital syndrome are hearing loss, cleft palate, and skeletal dysplasia of the hands and feet. The right temporal bone was acquired from a boy with this syndrome who died at the age of 2\m=1/2\ years.Behavioral audiometry had indicated a conductive hearing loss, with probable near-normal sensorineural function; brainstem evoked response audiometry indicated a mild sensorineural hearing loss. Histologic studies of the temporal bone revealed dysmorphic features in both the middle ear and the bony labyrinth. The ossicles were deformed, the stapes was fixed, and no round window was present.A defect of the modiolus resulted in a wide communication between the subarachnoid space of the internal auditory canal and the scala vestibuli. These anomalies would clearly have frustrated any attempt to improve the patient's hearing through reconstructive middle ear surgery. (Arch Otolaryngol 1985;111:119-121) The otopalatodigital (OPD) syn¬ drome is characterized by skele¬ tal dysplasia, conductive hearing loss, and cleft palate. It was first described by Taybi1 in 1962, and since then, more than 25 cases have been reported.2 The diagnosis of OPD syndrome can be made based on characteristic facies and deformities of the hands and feet.All of these findings need not be present, however, particularly in female patients whose anomalies are less severe than those of male patients.3 A review of the literature did not (Harold F. Schuknecht, MD). reveal any histologie study of a tem¬ poral bone from a patient with OPD syndrome. Hearing loss in such cases has often been attributed to a conduc¬ tive lesion.48 While ossicular deformi¬ ties were found during surgery on four patients with OPD syndrome,4·89 none of the authors mentioned the possibility of coexisting inner ear anomalies.A histopathologic study of a single temporal bone obtained from a boy with OPD syndrome is presented herein. The specimen showed multiple dysmorphogenetic features in the middle and inner ears. REPORT OF A CASEClinical Findings A 2 V2-year-old boy with OPD syndrome died of acute respiratory failure caused by an upper respiratory tract infection. His body was refrigerated immediately after his death, and the temporal bone was removed 40 hours later.The child was the product of an uncom¬ plicated pregnancy, but a cesarean sec¬ tion was performed because of fetal dis¬ tress. He had multiple abnormalities, including hypertelorism, cleft palate, man¬ dibular hypoplasia, abnormal configura¬ tion of fingers, and absence of the great toes. He required nasogastric feeding, during which he had episodes of cyanosis.Chromosomal studies revealed no abnor¬ malities, and the patient was referred to the Genetic Clinic at the Yale-New Haven (Conn) Hospital.Physical examination revealed the fol¬ lowing dysmorphic features: large fonta¬ nelle, prominent forehead, hypoplastic nasal bridge, hypertelorism, antimongoloid palpebrai fissures, low-set ears, par¬ tial notch in midphiltrum, micrognathia, posterior cleft palate, clinodactyly...

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

“…2). The craniofacial changes in these women, especially the malformed auditory ossicles, are more consistent with OPD II [Andre et al, 1981;Shi, 1985;Stoll and Alembik, 1994]. Previous reports of deafness in MNS either represent a probable misdiagnosis [Sellars and Beighton, 1978;Donnenfeld et al, 1987] or the nature of the deficit is poorly described [Dereymaker et al, 1986].…”

Oto‐palato‐digital syndrome type II in two unrelated boys

“…The absence of cleft palate in our patients is unusual, but Kaplan & Maroteaux (1984) also described a typical case without cleft palate. The patients described by Farhud et al (1989) and Shi (1985) were probably cases of OPD 11, too. Fitch et al (1983) noted that the abnormalities, especially the facial appearance and the bone curvatures, regress during growth.…”

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

“…Inheritance is usually considered X‐linked recessive, with mild expression in carrier females. At least 29 male cases have been reported insofar, some very incompletely [Fitch et al, 1976, 1983; Kozlowski et al, 1977; André et al, 1981; Kaplan and Maroteaux, 1984; Brewster et al, 1985; Shi, 1985; Farhud et al, 1989; Ogata et al, 1990; Stratton and Bluestone, 1991; Blanchet et al, 1993; Holder and Winter, 1993; Young et al, 1993; Preis et al, 1994; Eccles et al, 1994; Nishimura et al, 1997]. The cases of Gendall and Kozlowski [1992] are now considered male MNS cases (Robertson et al [1997], vide infra).…”

“…Petit mal seizures were noted in one patient [Preis et al, 1994]. Deafness was noted in some patients [Kozlowski et al, 1977; André et al, 1981; Fitch et al, 1983; Shi, 1985; Stratton and Bluestone, 1991; Preis et al, 1994].…”