Results 21 to 30 of about 2,276 (204)

Isolated Cleft Foot: A Case Report and Review of Literature [PDF]

Indian Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly (syndromic/isolated). Although there have been published reports about this anomaly, none has so far described standardized treatment guidelines. In this case report, we describe the details of operative management
Sunil Kumar Rout, Mainak Mallik, Priyanka Pant, Akanksha Rajpoot   +3 more
doaj   +2 more sources

Surgical induction of metacarpal synostosis for treatment of ectrodactyly in a dog [PDF]

Veterinary and Comparative Orthopaedics and Traumatology, 2014
Ectrodactyly is a rare developmental anomaly of the distal part of the forelimb. It is characterized by the presence of an abnormal longitudinal soft tissue and osseous separation or cleft between the digits and the metacarpal bones. It can be associated
E. Cloriti, PISONI, LUCIANO, BELLEI, EMMA, JOECHLER, MONIKA, CINTI, FILIPPO, DEL MAGNO, SARA, DALPOZZO, BORIS   +6 more
exaly   +2 more sources

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature.
Buket Uysal Aladag, Fatma Hilal Yilmaz, Nadir Kocak, Ali Annagur   +3 more
doaj   +1 more source

Ectrodactyly-lobster claw deformity

The Pan African medical journal, 2021
Lobster-claw deformity, also called as ectrodactyly is an uncommon congenital presentation occurring in the hand due to longitudinal failure of development of second, third or fourth ray. It occurs in 1 to 4 newborns in 100,000 live births.
Sarath Kumar Udaya Kumar, Krishna Prasanth Baalan   +1 more
core   +4 more sources

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome. [PDF]

Clin Case Rep
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Bolzon A, Caroppo F, Passaglia L, Boaretto F, Salviati L, Belloni Fortina A.   +5 more
europepmc   +2 more sources

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]

Mol Genet Genomic Med
The expanded SHFM4 mutation spectrum encompasses 28 TP63 variants, including 12 dual‐phenotype (SHFM4/EEC3) mutations and 16 isolated SHFM4‐only mutations. The novel p.E678Q missense variant in the sumoylation motif is the most reliable SHFM4‐only mutation identified at the C‐terminus to date.
Yang W, Zhou J, Si N, Zhang X.
europepmc   +2 more sources

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations. [PDF]

J Gene Med
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Chen J, Xi X, Xu X, Lin Y.
europepmc   +2 more sources

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

Clinical Genetics, 1990
A complex dysostosis characterized by brachy- and/or ectrodactyly and fibular hypoplasia was found in two distantly related individuals. The proposita, aged 25 years, showed metacarpal and phalangeal hypoplasia on both hands, ectrodactyly on both feet ...
Maurizio Genuardi, Marcella Zollino, W Fuhrmann   +2 more
exaly   +1 more source

Split Hand/Foot Malformation with Long Bone Deficiency: A Report of Two Female Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2021
Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently ...
Mohammed ALI Al-SHEHAB, Ahmed Saleh Hudna, Fahd Naji Thawaba, Farouk Abdulrahman Al-QADASI   +3 more
doaj   +1 more source

Ectrodactyly and Prenatal Diagnosis [PDF]

The Journal of Obstetrics and Gynecology of India, 2011
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers.
S B, Nair, G, Mukundan, R, Thomas, K K, Gopinathan   +3 more
openaire   +2 more sources