J Med Genet: first published as 10.1136/jmg.10.2.192 on 1 June 1973. Downloaded from 192 Case Reports this decision was provided to the parents through- out many visits. Mobius Syndrome with Poland's Patients with Down's syndrome may have Anomaly* cryptorchidism or a small penis but other genital developmental abnormalities are uncommon Summary. A five-year-old boy with (Hamerton, 1971). Only one case of pseudoherm- Mobius syndrome, Poland's anomaly, aphroditism in a patient with Down's syndrome and dextrocardia is described. These has been reported previously and that was a female malformations have not been with congenital adrenal hyperplasia (Srivuthana, previously et al, 1971). There is some evidence, however, that reported. The propositus had ipsilateral the association of sex chromosome aneuploidy and absence of the sternal portion of the pec- Down's syndrome is higher than would be statisti- toralis major muscle associated with cally expected (Taylor and Moores, 1967). The acromicria, syndactyly, brachydactyly of lack of reported cases with the association of the the index, middle, ring, and fifth finger, two abnormal states seen in our patient suggests as well as radiological evidence of hypo- their simultaneous occurrence is coincidental. In plasia ofthe index middle and ring fingers, view of the large series of patients with Down's associated with syndactylia and absent syndrome reported we feel that if a common middle phalanges. mechanism for these abnormalities existed more cases of their co-existence would have been re- ported. Mobius syndrome associated with Poland's Two and a half years after the birth of the patient, anomaly, as represented by the case reported here, her mother became pregnant by her second husband. has not been previously described. Fifteen weeks after her last menstrual period an The first report of congenital bilateral facial par- amniocentesis was performed because of her in- alysis was made by von Graefe in 1880. In 1888, creased risk of bearing another child with Down's Mobius emphasized the nuclear agenesis of the syndrome. The karyotype on the amniotic fluid cranial nerves. Some of the most comprehensive cells was 46,XY. The possibility of this fetus be- reviews of this rare disorder were made by Hender- ing affected if the mother was the carrier of an X- son in 1939, Danis in 1945, Gorlin and Pindborg linked form of male pseudohermaphroditism was in 1964 as well as others (Hellstr6m, 1949; Richards, discussed with the parents. A normal male infant 1953; Evans, 1955). was delivered at term. Alfred Poland in 1841, dissected the body of a criminal with unilateral symbrachydactyly associ- http://jmg.bmj.com/ MITCHELL S. GOLBUS, ated with ipsilateral (same side) aplasia of the sternal CHARLES J. BEAUCHAMP, COL. USAF, head of the pectoralis major muscle. In 1900, and FELIX A. CONTE Furst provided a detailed analysis of the type of hand malformation, the associated muscle defects and insight into the aetiology. Department of Pediatrics University of California- San Francisco; San Francisco, California 94122 and Case Report the Department of Pediatrics, David Grant USAF on October 1, 2021 by guest. Protected copyright. This 5-year-old boy was first seen at the Orthopaedic Medical Center, Travis Air Force Base, California Hospital, Los Angeles, California in May 1971, be- 94535, USA. cause of multiple congenital abnormalities involving the eye, facial muscles, jaw, teeth, palate, sternum, chest, and REFERENCES hand. The mother's pregnancy was apparently normal. Hamerton, J. L. (1971). Human Cytogenetics: Clinical Cytogenetics, She gained approximately 15-9 kg in weight from an Vol. 2. Academic Press, New York. initial weight of 66&7 kg. The father and mother were Saez, J. M., Fr6d6rich, A., and Bertrand, J. (1971). Endocrine and unrelated, and were both 30 years of age at the time of metabolic studies in children with male pseudohermaphroditism. birth. The was 4 0 The 3'ournal of Clinical Endocrinology, 32, 611-618. the patient's birthweight kg. Srivuthana, S., Collipp, P., Sherman, J., and Zaino, E. (1971). baby breathed and cried spontaneously. No diagnosis of Translocation mongolism with virilizing adrenal hyperplasia. any syndrome was made. He had two operations on his American Journal of Clinical Pathology, 55, 232-236. eye muscles for stabismus, at age 1 and 3 years. There Sumner, A., Evans, H., and Buckland, R. (1971). New technique for distinguishing between human chromosomes. Nature New was no family historyofneurological or somatic disorders. Biology, 232, 31-32. Taylor, A., and Moores, E. (1967). A sex chromatin survey of new- Received 27 November 1972. born children in two London hospitals. Journal of Medical * Address reprint requests to: G.I.S., 3325 Division Street, Los Genetics, 4, 258-259. Angeles, California 90065, USA. J Med Genet: first published as 10.1136/jmg.10.2.192 on 1 June 1973. Downloaded from Case Reports 193 Physical Examination. The 5-year-old boy was plastic mandibles; (8) obesity; (9) short, fixed stemrnum alert, co-operative, normally intelligent, but somewhat with aplasia of the sternal portion of the left pectoralis sensitive about his abnormalities. He had the following major muscle (Figs. 2a and 2b); (10) dextrocardia with- congenital abnormalities: (1) fixed, expressionless facies out murmurs; (11) left-hand acromicria with soft tissue (Fig. la) with inability of the eyes to move on lateral or syndactyly and brachydactyly ofthe second, third, fourth, medial gaze; (2) inability to close the lids completely and fifth fingers (Fig. 3). He also had slight clubbing of (Fig. lb); (3) bilateral facial nerve paralysis with in- the left fingernails and (12) involvement of the cranial ability to smile; (4) microlingua; (5) hypoplasia of the nerves III, IV, V, VI, VII, IX, and XII. teeth; (6) high arched palate; (7) micrognathia and hypo- His vision, hearing, and sense of smell were intact. He Fig. la Fig. lb I http://jmg.bmj.com/ on October 1, 2021 by guest. Protected copyright. Fig. 3 FIG. la. Facies. Note the absence of expression due to facial di- plegia (cranial nerve VII). FIG. lb. Facies. Note the difficulty in closing eyelids. FIG. 2a. Full view. Note hypoplasia of the left pectoralis major muscle and strabismus. FIG. 2b. Full view. Note left hypoplasia of the pectoralis major muscle. FIG. 3. Hands. Left acromicria, syndactyly, and brachydactyly Fig. 2a Fig. 2b of middle, ring, and little fingers with shortening of the metacarpals. J Med Genet: first published as 10.1136/jmg.10.2.192 on 1 June 1973. Downloaded from 194 Case Reports weighed 23-4 kg was 106-6 cm tall with a head circum- Skull Series. Cranial vault was of average size. ference of 53-3 cm and a chest circumference of 60-3 cm. The sutures were open and were not spread. The The sternocleidomastoid and trapezius muscles were sella turica had normal appearance. There were normal. He had no physical signs of situs inversus or no abnormal intracranial calcifications. The man- congenital heart disorder. The genitalia were normal. dibular angles were quite obtuse. Radiographic Study (2 October 1972) Left hand: AP, Lateral, and Oblique Views. Chest: PA and Lateral Views. The Anatomy of the carpal ossification centres in the dis- heart was prominent in the right chest and was tal radius and ulna was unremarkable. There were rotated to the right (Fig. 4). The aortic arch five metacarpals with finger metacarpals approxi- appeared on the left. Soft tissues of the left mately the same length. There was less than the chest were much thinner than those on the right. usual amount of modelling of the index and middle metacarpals. An accessory ossification centre was present at the base of the second metacarpal and at the distal end of the first metacarpal which also showed lack of normal modelling. The thumb had two phalanges, the proximal thumb phalanx showed an accessory ossification at the distal end. The index, middle, and ring fingers had only two phal- anges, the proximal phalanges being slender and the other phalanges quite hypoplastic (Fig. 5). There was syndactylia of these three fingers and together they present a short projecting stump in the middle of the hand. The little finger had three phalanges, although the space between the middle phalanx and the distal phalanx was quite small and may eventually coalesce. http://jmg.bmj.com/ on October 1, 2021 by guest. Protected copyright. FIG. 4. Radiograph of the chest revealing dextrocardia and de- creased soft tissue of the left side of chest consistent with absence of muscle mass; also short fused sternum. Pulmonary vasculature was within normal limits and the lungs were clear. The right ribs laterally were a little closer together than the left. There was mild scoliosis. The liver was identifiable on the right with stomach gas bubble present on the left. The sternum was quite short and the seg- ments were fused, including the manubrium. There FIG. 5. Radiograph of the left hand. Note phalangeal absence of the distal second to fourth rays and interphalangeal webbing with was anterior convexity of the sternum just below the hypoplasia most marked in the index, middle, and ring fingers with junction with manubrium. syndactylia, missing middle phalanges and variations of modelling. J Med Genet: first published as 10.1136/jmg.10.2.192 on 1 June 1973. Downloaded from Case Reports 195 Discussion Jorgenson (1971) reported a patient with Mobius Our patient had typical features of Mobius syn- syndrome associated with bilateral hand defects and drome (Table I) as well as Poland's anomaly (Table hypoplasia of the right pectoral muscles. All the II), an unusual association and heretofore unre- fingers of the right hand were missing at the meta- ported. In addition, dextrocardia has not been carpophalangeal joints except for the thumb which previously reported in either Mobius syndrome or was slightly hypoplastic (ectrodactyly).