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Vol. 49, No. 2, December, 2000

In this issue :

Dr. Patnaik V.V.Gopichand

Gross Anatomy of the Caudate Lobe of the Liver
Sahni, D., Jit, I., Sodhi L. Department of Anatomy, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Branching Pattern of Axillary Artery - A Morphological Study
*Patnaik V.V.G., Kalsey, G; Singla Rajan, K. Department of Anatomy, Government Medical College, Amritsar, *Patiala. INDIA

The Course, Relations and The Branching Pattern Of The Middle Meningeal Artery In South Indians
Manjunath, K.Y. & Thomas, I.M. Department of Anatomy, St. John�fs Medical College, Bangalore-560 034 INDIA

Morphometry of the Human Inferior Olivary Nucleus
Dhall, U; Chhabra, S. & Rathi, S.K. Department of Anatomy, Pt. B.D. Sharma P.G.I.M.S., Rohtak. INDIA

Management of Turner Syndrome in India Using Anthropometric Assessment of Response to Hormone Replacement Therapy.
Sehgal R. and Singh A. Department of Anatomy, Maulana Azad Medical College and Associated Lok Nayak, G.B. Pant & G.N.E.C. Hospitals, New Delhi ? 110 002 INDIA.

Insertion Of Umbilical Cord On The Placenta In Hypertensive Mother
Rath* G, Garg** K, and Sood*** M. *Department of Anatomy, ***Department of Obstetrics & Gynaecology, Lady Hardinge Medical College, New Delhi-110001 **Department of Anatomy, Santosh Medical College, Gaziabad. INDIA

Utility Of Finger Prints in Myocardial Infarction Patients
Dhall, U; Rathee, S.K; *Dhall, A; Department of Anatomy & *Medicine, Pt. B.D. Sharma, PGIMS, Rohtak. INDIA

The Prenatal Parotid Gland
Fouzia Nayeem, Sagaff S., *Krishna G., **Rao S. Department of Anatomy, K.A.A.U. Jeddah. Department of *Pediatrics & **Surgery, Osmania Medical College, Hyderabad. INDIA

Possibility of Cell Death Induced Skeletal Malformations Of The Upper Limb
Sinha, D.N. Department of Anatomy, B.R.D. Medical College, Gorakhpur?273013 INDIA,

Efficacy of Manual Bladder Expression in Relieving Urine Retention After Traumatic Paraplegia In Experimental Animals.
Preeths, T.S., Sankar, V. Muthusamy, R. Department of Anatomy, Dr. A. Lakshmanasamy Mudaliar Postgraduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India.

Stress And Serum Cholesterol Levels-An Experimental Study
Jain, S.K. *Pandey, S.N. *Srivastava, R.K. Ghosh, S.K. Department of Anatomy, D.R.P.G. Medical College, Kangra at Tanda. * Department of Anatomy, G.S.V. Medical College, Kanpur.

Effect of Ibuprofen On White Cell Series of Bone Marrow Of Albino Rats
* Bhargava, R., Chandra, N., Naresh, M., *Sakhuja S. * Department of Anatomy, M.L.N. Medical College, Allahabad * Lady Hardinge Medical College, N. Delhi, India.

JB4 An Embedding Medium For Flourescent Tracer Technique
*Gupta, M; **Mishra, S., ***Sengupta P. Department of Anatomy, *PGI, Chandigarh; **AIIMS, N. Delhi; ***UCMS, New Delhi. INDIA

Comparative Anatomy of Cardiac Veins in Mammals
Kumar Keshaw Department of Anatomy, Institute of Medical Sciences B.H.U., Varanasi?5. INDIA

Aplasia Cutis Type 9 With Trisomy-13 Syndrome ? A Rare Association
Adhisivam, B, Narayanan, P, Vishnu Bhat, B, *Ramachandra Rao. R*, *Rao. S*, Kusre, G.* Department Pediatrics & *Anatomy, JIPMER, Pondicherry - 605 006

Absence of Musculocutaneous Nerve And The Innervation of Coracobrachialis, Biceps Brachii And Brachialis From The Median Nerve
Sud, M.; Sharma A. Department of Anatomy, Christian Medical College, Ludhiana. Punjab INDIA.

A Rare Pseudo Ansa Cervicalis: A Case Report
Indrasingh I. and Vettivel S. Department of Anatomy, Christian Medical College, Vellore, India

A Rare Variation In The Relation Of Omohyoid Muscle: A Case Report
Vettivel, S. Korula, A. and Koshy S. Department of Anatomy, Christian Medical College, Vellore, India

Surgical Incisions ? Their Anatomical Basis Part II - Upper Limb
1Patnaik V.V.G., 2Singla Rajan. K., 3 Gupta P.N. Department of Anatomy, Government Medical College, Patiala1, Amritsar2, 3Department of Orthopedics, Government Medical College, Chandigarh. INDIA

Anatomy Of Temporomandibular Joint?A Review
1Patnaik V.V.G., 3Bala Sanju; 2Singla Rajan K. Department of Anatomy, Govt. Medical College, 1Patiala, 2Amritsar, 3Department of Oral & Maxillofacial Surgery, Pb. Govt. Dental College, Amritsar


J Anat. Soc. India 49(2) 174-175 (2000)
Aplasia Cutis Type 9 With Trisomy-13 Syndrome ? A Rare Association

Adhisivam, B, Narayanan, P, Vishnu Bhat, B, *Ramachandra Rao. R*, *Rao. S*, Kusre, G.* Department Pediatrics & *Anatomy, JIPMER, Pondicherry - 605 006

Abstract : Trisomy-13 with Aplasia cutis is an uncommon presentation. A female baby with the rare association and unreported autopsy findings like fusion of thalamus and absence of olfactory bulb is described.

Keywords : Trisomy 13, Aplasia cutis, Fused thalamus, Absent olfactory bulb.

Introduction :

Although the pattern of anomalies associated with Trisomy 13 syndrome was described by Bartholin, (1957) it was not widely recognized until 1960 when Patau et al demonstrated the extra chromosome in the D (13-15) group. This syndrome usually includes cerebral defects, cleft lip and palate, anophthalmos, polydactyly and capillary hemangiomas (Patau et al 1960,Magenis et al 1968). We present a rare case of this syndrome with aplasia cutis and other unusual anomalies.

Case Report :

A female baby was born to a primigravida mother at 34 weeks of gestation. The mother was 24 years old and married to her maternal uncle. There was no history of any exanthematous fever, teratogenic drug ingestion or radiation exposure during the antenatal period. She had evidence of pregnancy-induced hypertension. There was no history of congenital anomalies in the family of both the parents. An ultrasonography done 4 days prior to delivery showed oligohydramnios and bilateral polycystic kidney disease in the fetus. The baby was born by assisted breech delivery and had an APGAR score of 1/10, 5/10 & 6/10 at 1�f, 5�f & 10�f respectively. She was resuscitated effectively and transferred to the nursery for respiratory distress and presence of multiple congenital anomalies.

On examination, she had microcephaly (head circumference - 26 cm.), weight of 1.37 kg. and crown heel length of 41 Cm. There were two (1 cm. X 1 cm.) circular defects, over the vertex exposing the duramater i.e., congenital aplasia cutis (fig. 1). The other anomalies present were cleft lip et palate, microphthalmos, capillary hemangioma over the forehead, abnormal helices in both the pinnae, loose skin over the posterior aspect of the neck, one natal tooth, supernumerary fingers over the ulnar side of both the hands, bilateral club feet and hyperconvex narrow fingernails (fig.2). Auscultation of the heart showed a short ejection systolic murmur over the left parasternal region. The baby had tachypnoea and subcostal retractions. There was good air entry on either side without any adventitious sounds. There was no mass palpable per abdomen.

Ultrasonography revealed fused thalamus with normal ventricles, bilateral infantile polycystic kidney disease and ostium secundum atrial septal defect. CT scan showed fused thalamus. Karyotyping revealed pure Trisomy 13.The baby was given oxygen, intravenous fluids and antibiotics. She was given tube feeds from third day of life. The baby�fs condition deteriorated and she expired on the seventh day of life. Autopsy revealed a right sided aortic arch, atrial septal defect, patent ductus arteriosus, bilaterally absent 11th and 12th ribs, pyloric stenosis, Meckel�fs diverticulum, a long (4cm) vermiform appendix, bilateral polycystic kidneys, left sided double ureter and bicornuate uterus. Brain dissection showed absent olfactory tract and bulb (fig. 3),holoprosencephaly, small lateral ventricles and fused thalamus (fig. 4).

Discussion :

Trisomy 13 is a rare syndrome, the incidence being 1 in 5000 births. The male to female ratio for this syndrome is 0.9: 1. The maternal age at the time of birth appears to be bimodal with the first peak at 25 years and second at 38 years (Magenis et al 1968). In our case, the mother was 24 years old. The sibling recurrence risk is 0.55 % (Baty et al 1994). The median survival for children with Trisomy 13 is 2.5 days (Jones 1997). Around 82% of these babies die within the first month. The most common

Fig. 1 Scalp of the baby showing areas of aplasia cutis over the vertex

Fig. 2 Clinical photograph of the baby showng typica features (cleft lip and palate, polydactyly, and talipes equino varus)

Fig. 3 Autopsy picture of the brain showing absent olfactory bulb and tract and fused frontal lobes (Holoprosencephaly)

Fig. 4 Cut section of the brain showing fused frontal lobes (arrow above) and fused thalamus (arrow below)

causes of death reported are sudden cardio-pulmonary arrest, congenital heart disease and pneumonia (Baty et al 1994).

Holoprosencephaly, microcephaly, microphthal-mos, cleft lip and palate, abnormal helices, capillary hemangiomata, polydactyly, cardiac abnormalities (VSD, PDA, ASD, Dextroposition) are the common abnormalities found in 50 % or more of the patients with Trisomy 13 (Jones 1997, Warkany et al 1966). Baty et al, in their study have noted rare associations like bicornuate uterus (3 %), skull defects (3 %), malrotation of GIT (6 %), Meckel�fs diverticulum (11 %) inguinal / umbilical hernia (18 %) and natal teeth (3 %)-(Baty et al 1994). In our case, all the above rare associations except malrotation of GIT, and hernia were present. Moreover fusion of thalamus and absence of olfactory bulb, which were noted in our case, have not been reported in literature.

Aplasia cutis congenita is a rare anomaly characterized by the absence of circumscribed areas of skin at birth (Levin et al 1980). The reported incidence is 1 in 10,000 births. Nine forms have been described. (Frieden 1986, Atherton 1998). Type 9-aplasia cutis usually involves the scalp and is associated with chromosomal anomalies like Trisomy 13 (Dhinagar et al 1998). This rare finding was noted in our case.

Polycystic kidneys and ureter anomalies are present in less than 50 % of the cases of Trisomy 13 syndrome (Jones 1997). In our case, bilateral polycystic kidneys and double ureter were present.

In most cases of Patau�fs syndrome there is complete Trisomy of chromosome 13 whereas some of the long-term survivors with the syndrome were found to have mosaicism (Patau et al 1960, Batey et al 1994). As with Down syndrome, chromosomal studies are indicated in Trisomy 13 syndrome babies in order to detect translocation patient for whom the risk of recurrence would be of major concern (Jones 1997).

Due to the high infant mortality, surgical or orthopedic correction procedures should be withheld in early infancy to await the outcome of the first few months. However it is important to emphasize that each case should be individualized and the personal feelings of the parents must be acknowledged (Jones 1997, Baty et al 1994).

References :

1. Atherton D.J.: Naevi and other developmental defects. In: Rook/Wilkinson/Ebling Textbook of Dermatology, vol. 1, 6th edition, Ed. Champion RH, Burton JL, Burns DA, Breathnark SM- Blackwell scientific publication pp 608-613 (1998)
2. Baty, B.J; Jorde, L.B; Blackburn, B.L; Carey J C (1994): Natural history of Trisomy 18 and Trisomy 13: II- Psychomotor development. American Journal of Medical Genetics 49: 189-194
3. Dhinagar, S; Bhat, B.V; Verma, S; Balakrishna (1998): Aplasia cutis type 6. Indian Pediatrics 35: 1021 - 1024.
4. Frieden, I.J; (1986): Aplasia cutis congenital A clinical review and proposal for classification. Journal of American Academy of Dermatologist 14: 646-660
5. Jones, K.L.: Trisomy 13 syndrome, In: Smith�fs recognisable patterns of human malformations- 5th edition, Philadelphia- W.B. Saunders company publication pp 18-23. (1997)
6. Levin, D.L. Nolan, K.S; Esterly, N.B. (1980): Congenital absence of skin. Journal of American Academy Dermatologist 2: 203-206
7. Magenis, R.E; Hecht, F, Milham, S (1968): Trisomy 13 (D1) syndrome: Studies on parental age, sex ratio and survival. Journal of Paediatrics 73: 222-228
8. Patau, K; Smith, D.W; Therman, E; Inhorn S.L. (1960): Multiple congenital anomalies caused by an extra chromosome. Lancet 1: 790-793
9. Warkany, J, Passarge, E, Smith, L.B. (1966): Congenital malformations in autosomal trisomy syndromes. American Journal of Diseases of Child 112:502.

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