The acrocallosal syndrome in sisters
- 1 November 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 30 (5) , 399-405
- https://doi.org/10.1111/j.1399-0004.1986.tb01897.x
Abstract
Two sisters born to non-consanguineous healthy parents are described who present the following abnormalities: macrocephalpus, prominent forehead, hypertelorism, absence of the corpus callosum, inguinal hernias, duplication of hallucal phalanges and severe mental retardation. The older sister in addition had cleft palate, while only the younger had a supratentorial cyst between cerebrum and cerebellum and epileptic fits. After 6 sporadic cases, this is the first instance of siblings with the acrocallosal syndrome. This observation and definite and possible parental consanguinity in two further patients suggest that this syndrome might be recessively inherited.Keywords
This publication has 9 references indexed in Scilit:
- Prenatal diagnosis of Mohr syndrome by ultrasonographyPrenatal Diagnosis, 1985
- Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: Acrocallosal syndrome?American Journal of Medical Genetics, 1985
- Prenatal ultrasonographic diagnosis of holoprosencephaly two cases of cebocephaly and two of cyclopiaArchiv für Gynäkologie, 1984
- Prenatal detection of hydrolethalus syndromePrenatal Diagnosis, 1983
- The acrocallosal syndromeAmerican Journal of Medical Genetics, 1982
- Acrocallosal syndromeAmerican Journal of Medical Genetics, 1982
- Four patients including two sisters with the acrocallosal syndrome (Agenesis of the corpus callosum in combination with preaxial hexadactyly)Human Genetics, 1982
- The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patientsClinical Genetics, 1981
- Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndromeAmerican Journal of Medical Genetics, 1980