Bilateral split hand foot malformation in siblings: Case series

Ashi, Mohammed; Assur, Rehab; Awan, Basim A.; Aljaaly, Hattan

doi:10.1016/j.ijscr.2017.12.030

Cited by 2 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A similar co-existence of SHFM in siblings has been reported by Ashi M et al [ 11 ]. Lévy J et al, reported a case of triplet pregnancy in a 31-year-old healthy primigravida where one fetus was detected to have ectrodactyly and radial agenesis on ultrasonography at 10 weeks’ gestation.…”

Section: Review Of Literaturesupporting

confidence: 86%

A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

Hapani¹,

Shastri²

2021

Radiology Case Reports

View full text Add to dashboard Cite

Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Absence of tibia with ectrodactyly (lobster claw deformity) or tibial hemimelia with split hand/foot malformation (TH-SHFM) or Gollop-Wolfgang complex is a rarer malformation with highly variable manifestations.

show abstract

Section: Review Of Literaturesupporting

confidence: 86%

A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

Hapani¹,

Shastri²

2021

Radiology Case Reports

View full text Add to dashboard Cite

show abstract

“…Three cases of SHFM involving consanguineous families were due to mutations in the WNT10B gene 5. Mutations in the TP63 gene, which is homologous to the tumour suppressor gene TP53, are present in over 90% of patients with a syndromic phenotype of SHFM known as ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome 6.…”

Section: Discussionmentioning

confidence: 99%

Lady with ‘lobster claw’ feet

Aman

Darby

Rahmani³

2018

BMJ Case Reports

View full text Add to dashboard Cite

A 94-year-old woman admitted with confusion secondary to a urinary tract infection exhibited deformities in all four limbs that were present from birth. Her appearance was suggestive of split hand/split foot malformation a rare congenital condition that affects the central rays of the distal limb portion. She had no syndromic features and had lived without support or assistance of her daily activities. A keen knitter, she regularly knitted for her three grandchildren, all of which, along with her son, were unaffected by this condition.

show abstract

Bilateral split hand foot malformation in siblings: Case series

Cited by 2 publications

References 16 publications

A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

Lady with ‘lobster claw’ feet

Contact Info

Product

Resources

About