Results 161 to 170 of about 2,276 (204)
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Fibular aplasia with ectrodactyly
American Journal of Medical Genetics, 2002AbstractFibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics with the better known tibial aplasia‐ectrodactyly syndrome. They appear to be inherited in an autosomal dominant fashion.
Jane A, Evans +2 more
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Ectrodactyly with fibular aplasia: A separate entity?
European Journal of Medical Genetics, 2008E/FA is the combination of ectrodactyly (split hand/foot malformation, SHFM) and fibular aplasia. It is a rare disorder considered to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression. In order to determine recurrence risks for the two patients we describe, the literature on inheritance of E/FA was carefully ...
Menke, Leonie A. +5 more
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Holoprosencephaly, telecanthus and ectrodactyly
Clinical Dysmorphology, 1992The clinical features in a fetus with lobar Holoprosencephaly, telecanthus and ectrodactyly are presented and compared with those in a previously published case showing very similar abnormalities.
I D, Young +3 more
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A Clinical Picture of Ectrodactyly Hand
JCR Journal of Clinical Rheumatology, 201537-year-old outpatientwomanhas recentlycometoourattention for left shoulder pain, which was successfully treated for bursitis through needle aspiration of 70 mL of blood and intra-articular administration of 4 mg of anti-inflammatory glucocorticoid with complete pain recovery.
Andrea Emilio, Salvi +2 more
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Clinical Dysmorphology, 1993
We report a fetus with hydrops, ectrodactyly, syndactyly, duplication of the great toes and several other features. From a review of the literature we suggest that this constellation of abnormalities has not previously been reported.
S J, Landy, D, Donnai
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We report a fetus with hydrops, ectrodactyly, syndactyly, duplication of the great toes and several other features. From a review of the literature we suggest that this constellation of abnormalities has not previously been reported.
S J, Landy, D, Donnai
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Archives of Dermatology, 1975
• A patient had congenital absence of thumb nails with associated absence of the distal phalanges of the thumbs. We review the pertinent literature. ( Arch Dermatol 111:1482-1483, 1975)
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• A patient had congenital absence of thumb nails with associated absence of the distal phalanges of the thumbs. We review the pertinent literature. ( Arch Dermatol 111:1482-1483, 1975)
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American Journal of Medical Genetics, 1994
This succinct `Letter to the Editor` was written in response to a report on a family exhibiting both a t(2;7)(q21.2;q22.1) and split hand/foot anomaly by Genuardi et al. [1993]. Pertinent sections of the article are discussed, with disagreement taken with a lack of mention to work conducted in 1991 by Rivera et al.
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This succinct `Letter to the Editor` was written in response to a report on a family exhibiting both a t(2;7)(q21.2;q22.1) and split hand/foot anomaly by Genuardi et al. [1993]. Pertinent sections of the article are discussed, with disagreement taken with a lack of mention to work conducted in 1991 by Rivera et al.
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Rokitansky‐Küster‐Hauser syndrome with ectrodactyly
Acta Obstetricia et Gynecologica Scandinavica, 1988This paper describes an 18‐year‐old patient with Rokitansky‐Küster‐Hauser (R‐K‐H) syndrome. In this case, apart from the usual alterations associated with the R‐K‐H syndrome, such as aplasia of the Mullerian ducts, renal agenesis, ectopic kidney and anomalies of vertebral column, ribs and hips, rare skeletal, unilateral abnormalities of the left hand ...
C. Massafra +3 more
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Digital Augmentation for Ectrodactyly: Management and Planning
Hand Clinics, 1990Selection of the most appropriate operations for a patient is as important as technical expertise in performing the procedures. Web deepening may be performed alone or in addition to tissue augmentation and should be planned in conjunction with bone lengthening.
C A, Peimer, M, Alexander
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Holoprosencephaly and Ectrodactyly
American Journal of Medical Genetics. Part C-Seminars in Medical Genetics, 2010Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combination of these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here).
Keaton, Amelia A. +6 more
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