The Aase syndrome in a female infant.

Higginbottom, Marilyn C.; Jones, Kenneth Lyons; Kung, Faith; Koch, Thomas; Boyer, Jeffrey L.

doi:10.1136/jmg.15.6.484

Cited by 10 publications

(6 citation statements)

References 10 publications

(9 reference statements)

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“…The daughter had associated hypogammaglobulinemia. Two other reports supported autosomal recessive inheritance (Higginbotton et al, 1978;Pfeiffer and Ambs, 1983). Table 8 shows disorders characterized by radial deficiency with orofacial malformations.…”

mentioning

confidence: 90%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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The main values of our knowledge of the genetics of birth defects are proper diagnosis and counseling. A classification of hand malformations on anatomic and genetic grounds was proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures. The hand malformation is either isolated or associated with other organ malformation as a part of syndromes. In the monograph by Temtamy and McKusick (1978), numerous new syndromes were identified, some of which were based on single or few observations. The paper summerizes the pertinent findings in a computerized literature survey of absence or deficiency malformation as part of synderomes reported between 1977 and 1983. Analysis of the literature confirmed the identity of previously reported syndromes and added “new” entities. The originally proposed classification of hand malformations proved to be useful and allowed for easy sorting out of the recent literature and for indentification of new syndromes.

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mentioning

confidence: 90%

The Genetics of Hand Malformations: Updated*

Temtamy¹

1985

Congenital Anomalies

129

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“…Webbed neck has been described in congenital pure red cell aplasia (Diamond et al 1970, Nathan & Oski 1981, and was also present in the case described by Murphy & Lubin (1972). Ventricular septa1 defect has been described in the Aase Syndrome (Smith 1982) and so has a thumb anomaly in addition to a triphalangeal thumb in a single patient (Higginbottom et al 1978). Short stature, webbed neck, abnormal thumbs, abnormal ears, flat nasal bridge, have all been described in association with pure red cell aplasia in Diamond-Blackfan Anemia but not all concurrently in the same patient.…”

Section: Discussionmentioning

confidence: 95%

“…The first report of the Aase Syndrome by Aase & Smith (1969) described two boys who had congenital red cell aplasia and triphalangeal thumbs. Since then other reports (Higginbottom et al 1978, Jones & Thompson 1973, Murphy & Lubin 1972, van Weel-Sipman et al 1977 have described girls as well as boys with other congenital anomalies including webbed neck, cleft lip and palate.…”

mentioning

confidence: 97%

Multiple dysmorphic features and pancytopenia: a new syndrome?

Sackey¹,

Sakati

Aur³

et al. 1985

Clinical Genetics

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Various degrees of bone marrow aplasia have been described in association with distinctive congenital anomalies such as the Fanconi Pancytopenia Syndrome (F.P.S.), Thrombocytopenia Absent Radii Syndrome (T.A.R. Syndrome) the Aase Syndrome and Diamond‐Blackfan Anemia. This case report describes a child with pancytopenia and several dysmorphic features which have never collectively been described in any of the bone marrow aplasia syndromes listed above. In this paper, we report a constellation of dysmorphic features and pancytopenia which may constitute a new syndrome.

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“…Two patients had a unilateral triphalangeal thumb [5,8]. Two patients had a unilateral triphalangeal thumb [5,8].…”

Section: Discussionmentioning

confidence: 99%

“…Diamond et al [5] reviewed 133 published and unpublished cases of CHA and found six with triphalangeal thumbs (Aase syndrome: [ Pfeiffer and Arabs [13] Own case: R. W. 4,6,8,11]) and nine with cleft lip and/or palate. The basic defect in the usual CHA also is unknown.…”

Section: Discussionmentioning

confidence: 99%