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Biomedical subjects

R Reuben

Publications and source records attributed to R Reuben.

At least 73 records · Page 4Linked to original sources
PubMed1976

Congenital ophthalmoplegia in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathologic study and review of the literature.

Two patients with Goldenhar-Gorlin syndrome showed paralysis of one or more extraocular eye movements on neurologic examination. At autopsy, a third patient showed unilateral agenesis of trochlear and abducens nerves and corresponding brain stem nuclei. Congenital ophthalmoplegia is not infrequent in Goldenhar-Gorlin syndrome and may be due to hypoplasia or agenesis, or both, of extraocular muscles, extraocular nerves, and brain stem nuclei.

Abducens Nerve↗
PubMed1976

Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).

Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. Autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.

Abnormalities, Multiple↗
PubMed1976

Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle.

A case of total congenital external ophthalmoplegia associated with infantile spinal muscular atrophy is presented. In the first 29 months of life, ophthalmoplegia has remained complete. Ultrastructure of lateral rectus extraocular muscle indicates a neurogenic process as the basis of the ophthalmoplegia. Light microscopy alone is insufficient to distinguish primary "myopathic" from "neurogenic" disease in external eye muscles.

Child, Preschool↗
PubMed1975

Unilateral arhinencephaly in goldenhar-gorlin syndrome.

The post-mortem examination of the brain of a 2 1/2-year-old girl with clinical featutes of oculo-auriculo-vertebral dysplasia and hemifacial microsomia (Goldenhar-Gorlin syndrom) revealed a unilateral absence of the olfactory foramina of the lamina cribrosa of the ethmoid bone and ipsilateral absence of olfactory bulb and tract. Other cerebral abnormalities were also present. In this report, unilateral arhinencephaly in this disorder has been documented for the first time and an attempt has been made to correlate various nosological, clinical and pathological aspects of the case with previously reported instances of arhinencephaly. It is concluded that unilateral arhinencephaly occurs in a variety of cranial and facial abnormalities and is not specific for any particular syndrome.

Abnormalities, Multiple↗
PubMed1975

Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).

A 2 1/2 year old child with clinical features of Goldenhar-Gorlin syndrome showed diminished pinprick sensation over the right half of the face. After surgery for the cleft lip, the child died. Neuropathological investigations showed agenesis of the right trigeminal nerve and hypoplasia of the right trigeminal brain-stem nuclei. Nosological aspects of the Goldenhar-Gorlin syndrome and previously reported cases of congenital trigeminal anaesthesia in this disorder are discussed. It is suggested that the hypoplasia of the trigeminal nerve is responsible for the diminished facial sensation seen in some patients with this craniofacial syndrome.

Abnormalities, Multiple↗