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Pena-Shokeir Syndrome I in a 36 weeks old infant

Autopsy Report No:3055

Dr. Seyed Reza Samsamshariat
Pathologist
Medical Board Registration No: 32482
www.drsamsampathology.ir
....................

Patient: #####
Father:######
Age/Sex: 36 weeks/ Female
Gynecologist: #######
Date of death: IUFD
Cause of death: Unknown
Date of Autopsy: January 4th, 2011
Autopsy No: 3055

Clinical information:
The cadaver belongs to a 36 weeks old female fetus who had a 29 years old mother a 32 years old father that were consanguineous as cousins. The uncle of the parents has 2 daughters who are deaf. This was the 3rd pregnancy of this mother in which there was not any presentation of diabetes, hypertension, spotting or any other disease. The first pregnancy had led to a normal neonate who is a 7 yrs old child at the present time. The 2nd fetus was aborted in the 8th month of the gestation. This fetus moved till 3 days ago when mother had amniotic membrane rupture. Gynecologist had found that abortion had occurred and the death fetus was born vaginally.

Gross Examination of the Body:
The body is a female with a crown-heel height of 33 cm and a crown-rump height of 26cm. The lower limb was 17 cm and head circumference 29 cm. There is not any bruise but generalized maceration can be seen. A mild cyanosis is seen but there is not any edema. There is telecanthus (figure 1). The palpebral fissures are down slanting. There is a high arch palate . The ears have abnormal auricles which are attached to the scalp and are low-setting ( 2). The 3rd and 4th fingers of the hand have camptodactyly(Fig 3). The palmar lines do not match with down syndrome. Knees are flexed and show stiffness. The posterior part of the trunk is normal. Choanal atresia is seen(Fig 1). The genital is female type. The umbilical cord is 6 cm in long and 1.4 cm in diameter. There are 3 vessels in its cut surface.
The Examination of Dissected Body:
The thoracic wall is normal. There"s not emphysema in it. The diaphragm is felt in the right and left. There is not any hydrothorax or pneumothorax. Thymus is not atrophic and does not have any hemorrhage or emphysema. It is 4*3*2.5 cm. The heart is cone shaped and is 4*3.5*2 cm. . The ventricles and atriums are filled with clothed blood. The oval foramen is open. The esophagus is normal and there is not any fistula or atresia in it. There is no mecunium plucking in the bronchus. Each lung is 6.5*5*3 cm. . They are airless and hyperemic. The abdominal cavity does not have ascites or pneumoperitoneum. The intestinal rotation is normal but colon is distended and seems necrotic ( Fig 4). Stomach is distended (Fig 5) and is 5*3*3 cm. A pyloric stenosis exists (Fig 6). The liver is soft and autolytic. It is 10*7*4 cm. Spleen is 5.5*3.5*1.5 cm with a normal shape. Urethras have normal path and each is 0.2cm in diameter. Each of the kidneys is 4*2.5*2.5 cm and has a normal shape. There"s not any infarction or abscess in the kidneys. The cortex is 0.1 cm and pale. Each of the adrenal glands is3*2*1.5 cm. the medulla is hemorrhagic. The urethra is normal and bladder is 4*2*1 cm which has a thickness of 0.2 cm in its wall.The uterus is 2*1*1 cm with a normal shape. The external genitalia has no pathologic feature .
Miroscopic Examination:
In the microscopic examination of the samples obtained from different organs the evidences of asphyxia are seen. Aspiration of meconium and amniotic fluid can be recognized in the lungs (Fig7). Tubular necrosis of the kidneys (Fig8), autolytic necrosis of the liver (Fig 9) and necrotizing enterocolitis (Fig 10) are the reasons for that speech.

Dx; Asphyxia (Secondary to Pena-Shokeir I Syndrome)/i

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آدرس مطب : اصفهان- خوراسگان- خیابان اباذر- کوچه سعدی - آزمایشگاه دکتر صمصام شریعت
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