1995
DOI: 10.1002/ajmg.1320550304
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Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple

Abstract: A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur-Fibula dysostosis syndrome with or without … Show more

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Cited by 12 publications
(11 citation statements)
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“…More complex defects involving the femora, fibulae, and the upper limbs were observed in 6 cases (23%) [Arnett cited in Putschar and Manion, 1956;Fritzsche, 1956;Gouw et al, 1985;Lipson, 1995; and in our Cases 2 and 5]. This particular combination of limb defects fulfills the criteria of what is called femur-fibula-ulna (FFU) dysostosis [Lenz et al, 1993], suggesting an overlap between the two conditions.…”
Section: Phenotype Of Sgfld Syndromesupporting
confidence: 54%
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“…More complex defects involving the femora, fibulae, and the upper limbs were observed in 6 cases (23%) [Arnett cited in Putschar and Manion, 1956;Fritzsche, 1956;Gouw et al, 1985;Lipson, 1995; and in our Cases 2 and 5]. This particular combination of limb defects fulfills the criteria of what is called femur-fibula-ulna (FFU) dysostosis [Lenz et al, 1993], suggesting an overlap between the two conditions.…”
Section: Phenotype Of Sgfld Syndromesupporting
confidence: 54%
“…FFU is usually a sporadic condition in which the involvement of limbs is frequently asymmetric, and it is only infrequently associated with internal malformations [Lenz et al, 1993]. The discovery of SGF in FFU was first reported by Lipson [1995] and retrospectively found in 5 published cases [Arnett cited in Putschar and Manion, 1956;Fritzsche, 1956;Gouw et al, 1985;our Cases 2 and 5]. In 4 cases, the involvement of the lower limbs was asymmetrical with absent or hypoplastic femur, absent fibula on one side, and amelia or terminal transverse defect on the other side.…”
Section: Nosologymentioning
confidence: 99%
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“…The continuous form of splenogonadal fusion has been associated with limb and palatal defects, micrognathia, and various other anomalies [Carragher, 1990]. Lipson [1995] reported what he described as the 20th case of splenogonadal fusion associated with congenital limb deficiencies and, because the parents were consanguineous, suggested the possibility of autosomal recessive inheritance of this condition. Previous cases were regarded as sporadic.…”
Section: Introductionmentioning
confidence: 99%