Short rib polydactyly syndrome type I (Saldino-Noonan syndrome).

نویسنده

  • Anoop Verma
چکیده

A full term female newborn, weighing 2 Kg, was born with severe shortening of limbs with bilateral postaxial polydactyly. Chest was very narrow. There was polysyndactyly of right and left toe (Fig. 1) and anthropometry revealed a length of 40 cms, upper segment 28 cm, arm span 35 cm and chest circumference 21 cm. The neonate had respiratory distress since birth and died after 5 hrs. A clinical diagnosis of short-rib polydactyly syndrome was made. The skeletal skiagram revealed short ribs, small pelvis, short tubular bones (Fig. 2).

برای دانلود 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

A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.

A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were obser...

متن کامل

Ocular pathology of the Majewski syndrome.

The association of lethal neonatal dwarfism, narrow thorax, and polydactyly is well established in the older literature particularly from the syndromes described by Jeune and Ellis-Van Creveld.' There has been renewed interest in this subject and the classification of short rib polydactyly since Majewski et al. described the features of a lethal congenital syndrome characterised by short ribs a...

متن کامل

Holoprosencephaly - polydactyly ( ' pseudotrisomy 13 ' ) syndrome : a syndrome with features of hydrolethalus and Smith - Lemli - Opitz syndromes . A collaborative multicentre study

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (SmithLemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance

متن کامل

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

متن کامل

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis tha...

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

برای دانلود 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

عنوان ژورنال:
  • Indian pediatrics

دوره 42 4  شماره 

صفحات  -

تاریخ انتشار 1991