Clinical History of...

  I. MULTIPLE SKELETAL ABNORMALITIES

      A. Metastatic Skeletal Survey:

Rocker bottom feet. Absent radius bilaterally. Four digital rays of both hands, probably a product of absent thumbs. Distorted abdominal & thoracic viscera perhaps postmortem. Mild microcephaly suspected. 13 rib pairs. Narrow pelvis w/out significant dysplasia. Vertebral column, femora, & humeri normal. Impression: various dysmorphic osseous features as discussed. Following primarily in the radial ray syndromes, consider Holt-Oram syndrome based on absent radii & 13 rib pairs.

      B. Radial deviation of right hand with four digits & one crease line.

      C. Ulnar deviation of left hand with four digits & no crease line.

      D. Bilateral clubbed feet.

      E. Left anterior rib cage more prominent than right.

 II. EXTERNAL FACIAL CONGENITAL ANOMALIES

      A. Bilateral low set ears.

      B. Medial: lateral canthus ration of 1.9:8.1

      C. Flat nasal bridge.

      D. Recessed chin.

      E. Sloping forehead.

III. INTERNAL ORGAN ANOMALIES

      A. Absence of left leaf of diaphragm with left lobe of liver & spleen pushed into left chest cavity causing the heart to be rotated to the right.

      B. Anomalous origin of left vertebral artery originating from arch of aorta.

      C. Pulmonary hypoplasia with right lung having two lobes with hint of septation between right & middle lobes, & the left lung only having one lobe.

      D. Marked bilateral pulmonary congestion & atelectasis.

      E. Two instead of four main pulmonary veins returning to left atrium of heart.

      F. Hepatomegaly with sinusoidal congestion, dilated veins & persistent extramedullary hematopoesis.

      G. Solitary left kidney with diffuse cystic renal dysplasia.

      H. Absence of right renal artery & right kidney.

      I. Bilateral adrenal glands present.

      J. Firm, slightly thickened but patent pylorus with collapse of proximal duodenum.

      K. Gastrointestinal malrotation with absence of cecum, appendix, ascending & transverse with residual caudal limb of midgut loop situated as a blind separate structure in right lower quadrant of abdomen.

      L. Urinary bladder with thickened walls, dilated trabeculate fundus & stenotic prostatic urethra without posterior uretheral valves.

     M. Heart with otherwise normal levocardia extrenal configuration & internal anatomy with closed ductus arteriosus foramen ovale.

     N. Brain with normal neuronal migration & no hemorrhage.

     O. Serosanguinous right pleural effusion, 1 cc.

     P. Two vessel umbilical cord with microcalcifications.

 IV. PLACENTA

     Placenta 276 grams( less than 10th percentile for 35 weeks gestational age), with adequate third trimester placental villi & no atherosis. The 31.0 cm eccentrically inserted two vessel (1 artery & 1 vein) umbilical cord has funisitis & there is marked calcification of Wharton's jelly. The membranes have chorioamnionitis & mecconium. Perinuclear stippling commonly seen in chromosome abnormalities is present.