+ Translate
+ Most Popular
Allopurinol and Loss of Consciousness in a 78-old Year Man Suffering from Gout
The parasites of British birds and mammals. 3XIV-3XVH
Studies on the in vitro synthesis of phi x 174 super helical covalently closed circular duplex dna and circular single stranded dna
The Shahada movement: a peasant movement in Maharashtra (India) - its development and its perspectives
The cranial nerves of Wallago attu
Anatomy of Mystus seenghala IV Nervous system
Haematology of Persian fallow deer (Dama mesopotamica)
Major weeds of rabi and kharif crops and their control
Structure of Morija-Banol iron-ore deposits, Rajasthan, and its control over mineralization
Donkioporia expansa - A lesser known wood destroyer in buildings
The new physiology of vision 3Xin. The testing of color-vision
Economic importance of Pteridophytes
Comparison of rice bran and maize bran as feeds for growing and fattening pigs
Ketoconazole shampoo 1% vs. climbazole shampoo in the treatment of seborrhoeic scalp dermatitis
Economic efficiency of biwall drip irrigation in sugarcane production - a case study in Ankalkhop village in Sangli District of Maharashtra
48,4X-49,5X mosaic: asynchronies among the late-replicating X chromosomes
Compatibility of potassium phosphonate (Akomin-40) with different species of Trichoderma and Gliocladium virens
Enterobacter amnigenus. An unusual human pathogen
The 48 4X 49 4Xy 49 4X iso chromosome yq mosaicism in a 3 year old boy from a twin pregnancy
Placentrex treatment in corneal defects in animals
The biology of human starvation: some new insights
Real-time PCR assays for the specific detection of monkeypox virus West African and Congo Basin strain DNA
Replenishable but depletable resources: water
New insights into bestiality and zoophilia
Thoracic outlet syndrome in Ehlers-Danlos patients as displayed by magnetic resonance imaging, angiography and venography

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder

American Journal of Medical Genetics 73(4): 442-446

ISSN/ISBN: 0148-7299

PMID: 9415472

We report on a patient born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. To our knowledge, there is just one similar description of this syndrome in three members of a Brazilian kindred whose parents were also consanguineous, suggesting autosomal recessive inheritance. We compare the findings of our patient with these previous reported cases and discuss the differential diagnoses of this new syndrome, which we suggest be named the acro-oto-ocular syndrome.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 068701764

Download citation: RISBibTeXText

Related references

Auditory atresia, hemifacial microsomia and deafness associated with acro-osteolysis A new autosomal recessive syndrome?. Journal of Medical Genetics 36(Suppl. 1): S64, 1999

Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?. Clinical Dysmorphology 11(3): 155-161, 2002

The nager syndrome acro facial dys ostosis evidence for autosomal dominant inheritance. Bergsma, Daniel And R Brian Lowry (Ed ) National Foundation March Of Dimes Birth Defects Original Article Series, Vol Xiii No 3c Natural History Of Specific Birth Defects Part C Of Annual Review Of Birth Defects, 1976 Xi+257p Illus Alan R Liss, Inc: New York, N Y , Usa ISBN 0-8451-1012-8: 195-202, 1977

Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genetics 18(3): 119-128, 1997

Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder. Clinical Dysmorphology 9(1): 61-62, 2000

Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. American Journal of Medical Genetics 17(4): 753-762, 1984

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clinical Genetics 28(1): 69-75, 1985

An autosomal recessive ocular syndrome with retinal defects in chickens. Investigative Ophthalmology and Visual Science 30(3 Suppl.): 308, 1989

Mulibrey nanism, an autosomal recessive syndrome with ocular involvement. Acta Ophthalmologica 60(4): 628-633, 1982

The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy. Saudi Medical Journal 26(7): 1161; Author Reply 1161-2, 2005

Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism. Annales de Genetique 27(2): 83-87, 1984

Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. Journal of Medical Genetics 21(2): 103-107, 1984

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. American Journal of Medical Genetics 33(1): 121-124, 1989

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics 20(4): 631-638, 1985

A new autosomal recessive disorder resembling Weaver syndrome. American Journal of Medical Genetics 33(4): 479-482, 1989