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R M Liberfarb

Publications and source records attributed to R M Liberfarb.

At least 19 recordsLinked to original sources
PubMed2001

Thoracolumbar spinal abnormalities in Stickler syndrome.

STUDY DESIGN: Retrospective review of clinical and radiographic records of patients with Stickler syndrome. OBJECTIVES: To describe thoracolumbar spinal abnormalities and their correlation with age and back pain among patients with Stickler syndrome. SUMMARY OF BACKGROUND DATA: Stickler syndrome (hereditary arthro-ophthalmopathy) is an autosomal dominant connective tissue disorder characterized by skeletal, ocular, oral-facial, cardiac, and auditory manifestations. Prevalence is approximately 1 in 10,000 (similar to that of Marfan syndrome). No one has investigated spinal abnormalities in a large series of patients. METHODS: A single-center evaluation of 53 patients from 24 families with Stickler syndrome (age range, 1-70 years) in a multidisciplinary genetics clinic. Thoracolumbar radiographs were analyzed for spinal abnormalities and correlation with age and back pain. RESULTS: Thirty-four percent of patients had scoliosis, 74% endplate abnormalities, 64% Schmorl's nodes, 43% platyspondylia, and 43% Scheuermann-like kyphosis. Sixty-seven percent of patients and 85% of adults reported chronic back pain. Endplate abnormalities and Schmorl's nodes were associated with adult age; endplate abnormalities, Schmorl's nodes, and adult age were associated with back pain. Only one adult patient was free of spinal abnormalities. CONCLUSIONS: Spinal abnormalities are nearly uniformly observed in Stickler syndrome, progress with age, and are associated with back pain. Although common, scoliosis is generally self-limited (only one patient needed surgical treatment). Correct diagnosis of this syndrome facilitates early identification and management of other potentially severe systemic manifestations and genetic counseling for affected families. Moreover, recognition of Stickler syndrome allows accurate prognosis for skeletal abnormalities and anticipation of potential surgical complications.

Adolescent↗
PubMed2001

Auditory dysfunction in Stickler syndrome.

OBJECTIVES: To characterize the natural history and possible mechanisms of hearing loss in Stickler syndrome (OMIM 108300; or hereditary progressive arthro-ophthalmopathy) and to determine if the auditory phenotype is a useful discriminating feature for the differential diagnosis of this group of disorders. DESIGN: Multifamily study. SETTING: Outpatient audiology and otolaryngology clinics at the Warren Grant Magnuson Clinical Center of the National Institutes of Health, Rockville, Md. SUBJECTS: Forty-six affected individuals from 29 different families segregating Stickler syndrome. INTERVENTIONS: Clinical audiologic and otolaryngological examinations were performed on all individuals, including pure-tone audiometry, speech audiometry, and middle ear immittance testing. Otoacoustic emissions, auditory brainstem response, infrared video electronystagmography, and temporal bone computed tomography were performed on a subset of participants. RESULTS: The hearing loss was most often sensorineural in adults, and approximately 28 (60%) of the 46 adult patients had 2 or more thresholds greater than the corresponding 95th percentile values for an age-matched, otologically normal population. The hearing loss most often affected high frequencies (4000-8000 Hz) and was generally no more progressive than that due to age-related hearing loss. Type A(D) tympanograms (classification using the Jerger model), indicating hypermobile middle ear systems, were observed in 21 (46%) of the 46 affected individuals. Computed tomography of the temporal bones revealed no inner ear malformations in 19 affected individuals. CONCLUSIONS: The hypermobile middle ear systems observed in ears with normal-appearing tympanic membranes represent a novel finding for Stickler syndrome and are likely to be a useful diagnostic feature for this disorder. The overall sensorineural hearing loss in type I Stickler syndrome is typically mild and not significantly progressive. It is less severe than that reported for types II and III Stickler syndrome linked to COL11A2 (OMIM 120290) and COL11A1 (OMIM 120280) mutations, respectively, or the closely related Marshall syndrome. This difference will be a useful discriminatory feature in the differential diagnosis of this group of disorders.

Adolescent↗
PubMed1993

Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency.

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.

Adolescent↗
PubMed1990

Distinctive cataract in the Stickler syndrome.

We determined the clinical characteristics of cataract in 133 patients with the Stickler syndrome. Cataracts of various types or aphakia were found in 115 of 231 eyes (49.8%) studied. The most frequent and distinctive lesions, described as wedge and fleck cataracts, accounted for 40 of the 93 cataracts (43.0%) observed. These distinctive opacities may serve as a clinical marker for the Stickler syndrome and facilitate early diagnosis.

Adolescent↗
PubMed1987

Otolaryngological manifestations of the Stickler syndrome.

The Stickler syndrome is a dominantly inherited, connective tissue disorder associated with retinal detachments, joint and skeletal abnormalities, and characteristic facies. We wished to evaluate patients with this disorder to ascertain the frequency of otolaryngological manifestations. Fourteen patients, 4-17 years of age, were evaluated when admitted for retinal detachment. Findings included: midface hypoplasia in all patients; mandibular hypoplasia in 11 patients; palatal anomalies in 10 patients (frank cleft in 6, submucous cleft in two, highly arched palate in two); and hearing loss in 6 patients (mixed loss in 3, sensorineural loss in 3). Hearing loss appeared more commonly in the higher frequencies; no apparent correlation was found between the presence of hearing loss and orofacial anomalies. Our experience suggests that the Stickler syndrome is not rare. Craniofacial dysmorphic features and otologic findings are sufficiently frequent to warrant otolaryngological evaluation.

Abnormalities, Multiple↗
PubMed1987

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

The Stickler syndrome is an autosomal dominant hereditary disorder of connective tissue with pleiotropic features including premature osteoarthropathy, mild spondyloepiphyseal dysplasia, vitreoretinal degeneration, and the Pierre-Robin sequence. Genetic linkage studies in two families with the Stickler syndrome have been performed using restriction fragment length polymorphisms associated with the structural gene for type II collagen, COL2A1. No recombinants between the Stickler phenotype and COL2A1 were observed. The total LOD score for linkage of the Stickler syndrome and COL2A1 at a recombination fraction (theta) of zero is 3.59. These findings suggest that, at least in some families, the mutation causing Stickler syndrome affects the structural locus for type II collagen.

Collagen↗
PubMed1986

Prevalence of mitral-valve prolapse in the Stickler syndrome.

An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by auscultation and two-dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty-six patients (45.6%) had mitral-valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral-valve prolapse did not increase with age. Nine patients (34.6% of those with mitral-valve prolapse) had the click-murmur syndrome; only one of them was symptomatic. Because of the growing list of complications associated with mitral-valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral-valve prolapse should be advised to have periodic follow-up and to instruct physicians caring for them of their need for antibiotic prophylaxis with certain surgical procedures.

Adolescent↗
PubMed1986

Tapetoretinal degeneration associated with multisystem abnormalities. A case report.

Tapetoretinal degeneration is not infrequently associated with other systemic abnormalities. The authors have examined an 11-year-old girl with severe pigmentary degeneration of the retina associated with severe musculoskeletal abnormalities, growth failure, recurrent respiratory problems, sensorineural hearing loss, and mental retardation. To the best of their knowledge, this constellation of features has not been described previously and probably represents a new clinical entity.

Abnormalities, Multiple↗
PubMed1985

Norrie's disease: a study of two families.

Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.

Adolescent↗
PubMed1984

Incidence and significance of a deletion of chromosome band 13q14 in patients with retinoblastoma and in their families.

Ten unrelated retinoblastoma patients were studied cytogenetically with high-resolution prophase banding; two had a deletion of chromosome 13, band q14. Neither of the two patients had any of the congenital defects usually associated with 13q14 deletions. In patient A, the deletion was found to be de novo. Patient B was found to be mosaic for the 13q14 deletion with 54% of the lymphocytes examined having the deletion. This study indicates that the 13q14 deletion may occur in a significant portion of all retinoblastoma cases. Esterase D activity and isozymes were studied also. The significance of findings will be discussed.

Carboxylesterase↗
PubMed1981

The Wagner-Stickler syndrome: a study of 22 families.

The Wagner-Stickler syndrome is a hereditary progressive arthro-ophthalmopathy with an autosomal dominant pattern of inheritance. Affected persons may have a wide variety of ocular, orofacial, and skeletal problems. We examined 22 index patients and 68 of their relatives. Of these 90 persons (41 in the pediatric age group), 70 were found to have the syndrome. We determined the frequency of the various problems and identified several progressive features. We established an approximate age of onset in the group with known retinal disease and in the asymptomatic group identified by family screening. Although the latter group was initially more mildly affected, they were at risk to develop serious ocular problems. Screening all relatives of affected persons for nonocular features of the syndrome should permit early diagnosis in the asymptomatic group and improve the long-term prognosis.

Abnormalities, Multiple↗
PubMed1980

A clinical syndrome associated with 5p duplication and 9p deletion.

We have evaluated a sister and brother with a similar pattern of malformations and death in early childhood associated with partial duplication chromosome 5p and possibly deletion of 9p. The father and the brother and several paternal relatives are carriers of the balanced translocation t(5;9) (p13;p22). The malformations which the two have in common are: prominent forehead, flat nasal bridge, long thin fingers, bilateral equinovarus deformity of the feet, diaphragmatic hernia and kidney malformations. The children died at ages 4 months and 27 months, the latter showing marked psychomotor retardation. The chromosome abnormalities, clinical history, and phenotypic features of our patients are similar to the case reported by Monteleone et al (1976). The findings in our patients and Monteleone et al. (1976) are not similar to those in other reported cases of partial and complete 5q duplications, perhaps because the others do not have partial deletion of 9p.

Abnormalities, Multiple↗
PubMed1979

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families.

We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rcp t(1;18) (q42;p11). The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities. Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.

Abnormalities, Multiple↗
PubMed1979

Hereditary progressive arthro-ophthalmopathy of Stickler.

The ocular histopathologic findings in three patients with the Stickler syndrome from two families included the following: total retinal detachment with marked folding, disorganization of the retina, and a preretinal membrane. The progression of the fundus lesions was followed up in two patients during the course of 30 and 24 years. Many cases variously reported as Wagner's disease, familial retinal detachment, hyaloideoretinopathy with cleft palate, and the Pierre Robin syndrome probably were the Stickler syndrome.

Adolescent↗