Eine wahrscheinlich autosomal recessiv vererbte Skeletmi�bildung mit Humeroradialsynostose

Keutel, J; Kindermann, Ilse; Möckel, H.

doi:10.1007/bf00696013

Cited by 17 publications

(5 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A review by Hunter et al [1976] emphasized the importance of oligodactyly in the classification of such cases. Those with normal hands frequently present with symmetrical upper limb involvement and anomalies of the patellae and proximal fibulae; their family histories indicate that autosomal recessive inheritance is likely [Keutel et al, 1970; Ramer and Ladda, 1989].…”

Section: Discussionmentioning

confidence: 99%

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure

Marles

Reed

Evans

2002

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.

show abstract

Section: Discussionmentioning

confidence: 99%

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure

Marles

Reed

Evans

2002

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Their case 4 was of particular interest, since on the right the radius was absent and the ulna was short and curved (radial dysplasia), yet on the left humerordaidl fusion had occurred, with both forearm bones present. Keute [9] has also reported humeroradial fusion on one side and absence of the radius on the other. the preaxial and postaxial aspects of the limbs with some variation as to which predominates.…”

mentioning

confidence: 91%

Autosomal recessive microcephaly and micromelia in Cree Indians

Ives¹,

Houston²,

Optiz³

1980

Am. J. Med. Genet.

View full text Add to dashboard Cite

In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.

show abstract

“…(1966). Further, humeroradial synostosis is a part of several syndromes inherited as autosomal recessives including the syndrome described by Keutel et al (1970) and that reported by Bass et al (1975), Majewski and Spranger (1976) and Schinzel(l980). Complete synostosis, which was demonstrated in this fetus as early as in the 17th week of gestation, was not yet present at 3 months of age in the patient affected with the syndrome described by Schinzel (1980) and was also not yet present in a 2 year-old patient affected with the syndrome described by Fuhrmann et al (1966), although also in patients with these syndromes normal elbow joints with cartilage never exist.…”

Section: Discussionmentioning

confidence: 91%

Prenatal ultrasound detection of humero‐radial synostosis in a case of antley‐bixler syndrome

Savoldelli

Schinzel

1982

Prenatal Diagnosis

View full text Add to dashboard Cite

The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.

show abstract

Eine wahrscheinlich autosomal recessiv vererbte Skeletmi�bildung mit Humeroradialsynostose

Cited by 17 publications

References 3 publications

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure

Autosomal recessive microcephaly and micromelia in Cree Indians

Prenatal ultrasound detection of humero‐radial synostosis in a case of antley‐bixler syndrome

Contact Info

Product

Resources

About