Results 141 to 150 of about 1,915 (178)

Ectrodactyly with fibular aplasia: A separate entity?

European Journal of Medical Genetics, 2008
E/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., Bijlsma, Emilia K., van Essen, Anthonie J., van den Boogaard, Marie-José H., van Rijn, Rick R., Cobben, Jan Maarten   +5 more
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Autosomal dominant ectrodactyly with sensorineural deafness

Clinical Dysmorphology, 2000
Ectrodactyly or split hand/split foot malformation as it is now known, is a rare developmental disorder sometimes associated with other systemic malformations. Very few cases of congenital hearing loss coexisting with ectrodactyly have been reported world-wide.
P, Mishra, M, Muranjan, B A, Bharucha
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Ectrodactyly and 7q22.1

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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Anonychia With Ectrodactyly

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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Holoprosencephaly, telecanthus and ectrodactyly

Clinical Dysmorphology, 1992
The 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, J M, Zuccollo, M, Barrow, A, Fowlie   +3 more
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Holoprosencephaly and Ectrodactyly

American Journal of Medical Genetics. Part C-Seminars in Medical Genetics, 2010
Holoprosencephaly (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., Solomon, Benjamin D., Van Essen, Anthonie J., Pfleghaar, Kathleen M., Slama, Michael A., Martin, Judith A., Muenke, Maximilian   +6 more
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Familial Ectrodactyly

Journal of Ultrasound in Medicine, 2006
Michael, Pinette, Louis, Garcia, Joseph R, Wax, Angelina, Cartin, Jacquelyn, Blackstone   +4 more
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Anonychia with ectrodactyly.

Archives of dermatology, 1976
A patient had congenital absence of thumb nails with associated absence of the distal phalanges of the thumbs. We reveiw the pertinent literature.
H, Rahbari, L, Heath, T A, Chapel
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Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome

Clinical Genetics, 1972
An adult female with ectrodactyly‐ectodermal dysplasia clefting (EEC) syndrome is described. The main features of this syndrome are: bilateral cleft lip and palate, split hands, abnormal hair and teeth, and chronic inflammation of the eyes. The similarity between the three children previously described and this patient further supports the concept of ...
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Ectrodactyly. A case report.

Minerva pediatrica, 2001
A case of ectrodactyly characterized by simple absence of the third finger of the right hand is reported. Clinical and genetic aspects are considered.
R, Sardi, F, Michelotti, S G, Gragnani
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