Severe cardiac anomalies in sibs with Larsen syndrome.

نویسندگان

  • P Strisciuglio
  • G Sebastio
  • G Andria
  • S Maione
  • V Raia
چکیده

Larsen syndrome is characterised by congenital anterior dislocation of the knees, associated with other joint dislocations, and a characteristic facies. Autosomal recessive and dominant inheritance have been proposed. A brother and a sister with consanguineous parents, suggesting autosomal recessive inheritance, were found to have the typical features of Larsen syndrome. In addition, they had severe cardiac manifestations, never reported before in familial cases of the syndrome. We suggest that the recessive form is probably more severe than the dominant form because of the frequent presence of concomitant cardiac anomalies.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Congenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016

Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah...

متن کامل

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewi...

متن کامل

THE SYNDROME OF DIABETES INSIPIDUS, DIABETES MELLITUS, OPTIC ATROPHY, DEAFNESS, AND ATONIA OF THE URINARY TRACT (DIDMOAD SYNDROME). TWO AFFECTED SIBS AND A SHORT REVIEW OF THE LITERATURE

Two brothers with DIDMOAD syndrome are reported. The older brother has diabetes mellitus (type I), diabetes insipidus, optic atrophy, deafness and atonia of the urinary tract with severe symptoms such as diabetic ketoacidosis and frequent urinary tract infections. His younger brother had the same manifestations but with less severity. We report the findings of our two patients and compare ...

متن کامل

A Case of Holt - Oram Syndrome

SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...

متن کامل

Spectrum of anomalies in Fanconi anaemia.

The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpig...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Journal of medical genetics

دوره 20 6  شماره 

صفحات  -

تاریخ انتشار 1983