Aglossia-adactylia syndrome.

Nevin, N. C.; Burrows, D.; Allen, G; Kernohan, D. C.

doi:10.1136/jmg.12.1.89

Cited by 43 publications

(14 citation statements)

References 8 publications

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“…The dermatoglyphic findings in one of the previously reported patients (Nevin 1975) showed great similarity to those of our Case 1 (absence of the a,b,c and d triradii and the presence of a distally displaced axial triradius on the adactylous hand). In addition, radial loops were observed on both thumbs, a n arch tibia1 was found in the right hallucal area and a whorl was seen on the distal part of the left sole, which are rare patterns in the general population.…”

Section: Discussionsupporting

confidence: 87%

Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)

1977

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Three cases, one with aglossia‐adactylia and two with aglossia, are presented, all of whom were born to consanguineous families. Although none of the cases had similarly affected sibs, the possibility of the autosomal recessive mode of inheritance might be taken into account in this syndrome. The dermatoglyphic findings in one previously reported patient showed great similarity to those of one of our cases.

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Section: Discussionsupporting

confidence: 87%

Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)

1977

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“…Terminal transverse limb defects (TTDs) of the forearm are reported to have an overall incidence of 1 per 25,000 live births [Birch-Jensen, 19491. These defects are usually sporadic [Czeizel et al, 1983;Hoyme et al, 1982;Nevin et al, 1975;Robinow et al, 19781 but have also occurred in some families perhaps due to a dominant trait [Bartoshesky et al, 1986;Graham et al, 1986;Hecht and Scott, 1981a;Soltan and Holmes, 19861. Autosomal recessive inheritance has also been suggested [Hecht and Scott, 1981bl and Brazilian families have been described with recessively inherited TTD of all limbs termed acheiropodia [E'reire-Maia, 19751. Some families inherit defects of the scalp and skull in conjunction with TDD (the Adams-Oliver Syndrome) [Bonafede et al, 1979;Kuster et al, 1988;Scribanu et al, 19751. Multiple pathogeneses of TTD have been proposed including amniotic band disruption sequence and vascular disruption [Bartoshesky et al, 1986;Bouwes Bavinck and Weaver, 1986;Bokesoy et al, 1983;Bouvet et al, 1978;Higginbottom et al, 1979;Hoyme et al, 1982;Soltan et al, 19861. In some instances vascular disruption has been attributed to intrauterine ischemia and secondary necrosis [Webster et al, 19871.…”

Section: Introductionmentioning

confidence: 99%

Terminal transverse limb defects associated with familial cavernous angiomatosis

Filling-Katz¹,

Levin²,

Patronas³

et al. 1992

Am. J. Med. Genet.

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Terminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid-forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium-DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.

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“…Oromandibular limb hypogenesis syndrome (OLHS) is a very rare disease characterized by a variety of disorders affecting the tongue and limbs (1). Although its etiology is still unknown, both genetic and environmental factors have been suggested as etiological factors.…”

Section: Introductionmentioning

confidence: 99%

“…Limb anomalies have a particularly variable range from syndactyly, referring to the partial separation of fingers, to amelia, referring to the missing of the limb (3). Generally, they tend to be distal to humerus and femur (1). Different variations may be seen in one or more limbs in the same patient or in different individuals (1,3).…”

Section: Introductionmentioning

confidence: 99%

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Oromandibular Limb Hypogenesis Syndrome Type I B as a Rare Clinical Variant: A Case Report and Review of the Literature

Hosseini

Sohanian

2019

Middle East J Rehabil Health Stud

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Introduction: Hypoglossia-hypodactyly is an uncommon genetic abnormality affecting the tongue and limbs. First, it was classified under a multipart group of disorders called oromandibular limb hypogenesis syndromes. The most extensively accepted etiology is intrauterine trauma. Hypoglossia, micrognathia of the mandible, and limb anomalies are the characteristic features of the syndrome. Case Presentation: A 19-year-old female patient was admitted to the Oral Medicine Department of the Dental School, Semnan University of Medical Sciences, for a dental checkup. After obtaining informed consent, the necessary dental prophylaxis was performed. This case was unique because the patient had only aglossia and deformity in her right hand and fingers. Conclusions: Since the disease is rare and presents as the first case in Iran, dentists must have knowledge about its clinical features and proper patient management. They also should explain the significance of systematic dental checkups, perfect oral hygiene, and the use of regular fluoride to patients. Therefore, the awareness of dentists is essential about diagnosis and appropriate referral to specialists.

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Aglossia-adactylia syndrome.

Cited by 43 publications

References 8 publications

Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)

Aglossia‐adactylia syndrome (special emphasis on the inheritance pattern)

Terminal transverse limb defects associated with familial cavernous angiomatosis

Oromandibular Limb Hypogenesis Syndrome Type I B as a Rare Clinical Variant: A Case Report and Review of the Literature

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