Case Reports

this decision was provided to the parents through-out many visits.

Patients with Down's syndrome may havecryptorchidism or a small penis but other genitaldevelopmental abnormalities are uncommon(Hamerton, 1971). Only one case of pseudoherm-aphroditism in a patient with Down's syndromehas been reported previously and that was a femalewith congenital adrenal hyperplasia (Srivuthana,et al, 1971). There is some evidence, however, thatthe association of sex chromosome aneuploidy andDown's syndrome is higher than would be statisti-cally expected (Taylor and Moores, 1967). Thelack of reported cases with the association of thetwo abnormal states seen in our patient suggeststheir simultaneous occurrence is coincidental. Inview of the large series of patients with Down'ssyndrome reported we feel that if a commonmechanism for these abnormalities existed morecases of their co-existence would have been re-ported.Two and a half years after the birth of the patient,

her mother became pregnant by her second husband.Fifteen weeks after her last menstrual period anamniocentesis was performed because of her in-creased risk of bearing another child with Down'ssyndrome. The karyotype on the amniotic fluidcells was 46,XY. The possibility of this fetus be-ing affected if the mother was the carrier of an X-linked form of male pseudohermaphroditism wasdiscussed with the parents. A normal male infantwas delivered at term.

MITCHELL S. GOLBUS,CHARLES J. BEAUCHAMP, COL. USAF,

and FELIX A. CONTE

Department of Pediatrics University of California-San Francisco; San Francisco, California 94122 andthe Department of Pediatrics, David Grant USAFMedical Center, Travis Air Force Base, California94535, USA.

REFERENCES

Hamerton, J. L. (1971). Human Cytogenetics: Clinical Cytogenetics,Vol. 2. Academic Press, New York.

Saez, J. M., Fr6d6rich, A., and Bertrand, J. (1971). Endocrine andmetabolic studies in children with male pseudohermaphroditism.3'ournal of Clinical Endocrinology, 32, 611-618.

Srivuthana, S., Collipp, P., Sherman, J., and Zaino, E. (1971).Translocation mongolism with virilizing adrenal hyperplasia.American Journal of Clinical Pathology, 55, 232-236.

Sumner, A., Evans, H., and Buckland, R. (1971). New techniquefor distinguishing between human chromosomes. Nature NewBiology, 232, 31-32.

Taylor, A., and Moores, E. (1967). A sex chromatin survey of new-born children in two London hospitals. Journal of MedicalGenetics, 4, 258-259.

Mobius Syndrome with Poland'sAnomaly*

Summary. A five-year-old boy withMobius syndrome, Poland's anomaly,and dextrocardia is described. Thesemalformations have not been previouslyreported. The propositus had ipsilateralabsence of the sternal portion of the pec-toralis major muscle associated withacromicria, syndactyly, brachydactyly ofthe index, middle, ring, and fifth finger,as well as radiological evidence of hypo-plasia ofthe index middle and ring fingers,associated with syndactylia and absentmiddle phalanges.

Mobius syndrome associated with Poland'sanomaly, as represented by the case reported here,has not been previously described.The first report of congenital bilateral facial par-

alysis was made by von Graefe in 1880. In 1888,Mobius emphasized the nuclear agenesis of thecranial nerves. Some of the most comprehensivereviews of this rare disorder were made by Hender-son in 1939, Danis in 1945, Gorlin and Pindborgin 1964 as well as others (Hellstr6m, 1949; Richards,1953; Evans, 1955).

Alfred Poland in 1841, dissected the body of acriminal with unilateral symbrachydactyly associ-ated with ipsilateral (same side) aplasia of the sternalhead of the pectoralis major muscle. In 1900,Furst provided a detailed analysis of the type ofhand malformation, the associated muscle defectsand insight into the aetiology.

Case ReportThis 5-year-old boy was first seen at the Orthopaedic

Hospital, Los Angeles, California in May 1971, be-cause of multiple congenital abnormalities involving theeye, facial muscles, jaw, teeth, palate, sternum, chest, andhand. The mother's pregnancy was apparently normal.She gained approximately 15-9 kg in weight from aninitial weight of 66&7 kg. The father and mother wereunrelated, and were both 30 years of age at the time ofthe patient's birth. The birthweight was 4 0 kg. Thebaby breathed and cried spontaneously. No diagnosis ofany syndrome was made. He had two operations on hiseye muscles for stabismus, at age 1 and 3 years. Therewas no family history ofneurological or somatic disorders.

Received 27 November 1972.* Address reprint requests to: G.I.S., 3325 Division Street, Los

Angeles, California 90065, USA.

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plastic mandibles; (8) obesity; (9) short, fixed stemrnumwith aplasia of the sternal portion of the left pectoralismajor muscle (Figs. 2a and 2b); (10) dextrocardia with-out murmurs; (11) left-hand acromicria with soft tissuesyndactyly and brachydactyly of the second, third, fourth,and fifth fingers (Fig. 3). He also had slight clubbing ofthe left fingernails and (12) involvement of the cranialnerves III, IV, V, VI, VII, IX, and XII.

His vision, hearing, and sense of smell were intact. He

Physical Examination. The 5-year-old boy wasalert, co-operative, normally intelligent, but somewhatsensitive about his abnormalities. He had the followingcongenital abnormalities: (1) fixed, expressionless facies(Fig. la) with inability of the eyes to move on lateral ormedial gaze; (2) inability to close the lids completely(Fig. lb); (3) bilateral facial nerve paralysis with in-ability to smile; (4) microlingua; (5) hypoplasia of theteeth; (6) high arched palate; (7) micrognathia and hypo-

Fig. la Fig. lb

I

Fig. 2b

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 majormuscle and strabismus.

FIG. 2b. Full view. Note left hypoplasia of the pectoralis majormuscle.

FIG. 3. Hands. Left acromicria, syndactyly, and brachydactylyof middle, ring, and little fingers with shortening of the metacarpals.

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Case Reports

weighed 23-4 kg was 106-6 cm tall with a head circum-ference of 53-3 cm and a chest circumference of 60-3 cm.The sternocleidomastoid and trapezius muscles werenormal. He had no physical signs of situs inversus orcongenital heart disorder. The genitalia were normal.

Radiographic Study (2 October 1972)Chest: PA and Lateral Views. The

heart was prominent in the right chest and wasrotated to the right (Fig. 4). The aortic archappeared on the left. Soft tissues of the leftchest were much thinner than those on the right.

FIG. 4. Radiograph of the chest revealing dextrocardia and de-creased soft tissue of the left side of chest consistent with absence ofmuscle mass; also short fused sternum.

Pulmonary vasculature was within normal limits andthe lungs were clear. The right ribs laterally werea little closer together than the left. There wasmild scoliosis. The liver was identifiable on theright with stomach gas bubble present on theleft. The sternum was quite short and the seg-ments were fused, including the manubrium. Therewas anterior convexity of the sternum just below thejunction with manubrium.

Skull Series. Cranial vault was of average size.The sutures were open and were not spread. Thesella turica had normal appearance. There wereno abnormal intracranial calcifications. The man-dibular angles were quite obtuse.

Left hand: AP, Lateral, and Oblique Views.Anatomy of the carpal ossification centres in the dis-tal radius and ulna was unremarkable. There werefive metacarpals with finger metacarpals approxi-mately the same length. There was less than theusual amount of modelling of the index and middlemetacarpals. An accessory ossification centre waspresent at the base of the second metacarpal and atthe distal end of the first metacarpal which alsoshowed lack of normal modelling. The thumb hadtwo phalanges, the proximal thumb phalanx showedan accessory ossification at the distal end. Theindex, middle, and ring fingers had only two phal-anges, the proximal phalanges being slender andthe other phalanges quite hypoplastic (Fig. 5).There was syndactylia of these three fingers andtogether they present a short projecting stump inthe middle of the hand. The little finger had threephalanges, although the space between the middlephalanx and the distal phalanx was quite small andmay eventually coalesce.

FIG. 5. Radiograph of the left hand. Note phalangeal absence ofthe distal second to fourth rays and interphalangeal webbing withhypoplasia most marked in the index, middle, and ring fingers withsyndactylia, missing middle phalanges and variations of modelling.

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Jorgenson (1971) reported a patient with Mobiussyndrome associated with bilateral hand defects andhypoplasia of the right pectoral muscles. All thefingers of the right hand were missing at the meta-carpophalangeal joints except for the thumb whichwas slightly hypoplastic (ectrodactyly). The lefthand had a normal thumb and forefinger but theother three digits were hypoplastic with interdigitalwebbing. In contrast, our patient with Mobiussyndrome had ipsilateral absence of the sternal por-tion of the pectoralis major muscle associated withacromicria, syndactyly, brachydactyly of the index,middle, ring, and fifth digits as well as radiologicalevidence of hypoplasia of the left index, middle,and ring fingers with syndactylia, absent middlephalanges, and variations of modelling.

Additional associated malformations occurringwith Mobius and Poland's anomaly have been sum-marized in Table I and Table II. Various isolatedsporadic malformations have also been reported:unilateral symbrachydactyly, bilateral aplasia of thesternal head of the pectoralis major muscle, andbilateral ectrodactyly with a unilateral pectoralmuscle defect (Ehrenhaft, Rossi, and Lawrence,1966).

We would like to thank Dr R. R. Schreiber, Chief ofRadiology at Orthopaedic Hospital, Los Angeles, Cali-fornia for the radiographic interpretation and AlfredBenjamin, RBP, ARPS, Director, Audio-Visual Depart-ment, Orthopaedic Hospital, Los Angeles, California, forthe photographs.

GERALD I. SUGARMAN and HERBERT H. STARK

DiscussionOur patient had typical features of Mobius syn-

drome (Table I) as well as Poland's anomaly (TableII), an unusual association and heretofore unre-ported. In addition, dextrocardia has not beenpreviously reported in either Mobius syndrome orPoland's anomaly. Mobius syndrome has been re-ported with arthrogryposis multiplex congenita,Klippel-Feil syndrome (Evans, 1955) and fascio-scapulohumeral muscular dystrophy (Hanson andRowland, 1971).

TABLE IMOBIUS SYNDROME

Congenital facial diplegia(Cranial nerve VII)

Difficulty in swallowing(Cranial nerves IX and X)

External ophthalmoplegia(Cranial nerves VI)

Other cranial nerves VII, III, and V

Associated abnormalities1. Clubfoot2. Epicanthal folds3. Hypertelorism4. Strabismus5. Ear abnormalities6. Micrognathia7. Bifid uvula8. Palatal palsy9. Perodactyly, syndactyly, brachydactyly

10. Congenital heart disease11. Pectoral muscle hypoplasia

TABLE IIPOLAND'S ANOMALY AND ASSOCIATED FINDINGS

I. Musclea. Absence or hypoplasia of pectoralis major (sternal head)b. Absence or hypoplasia of pectoralis minorc. Absence or hypoplasia of external abdominal, latissimus dorsi,

serratus anterior, intercostal

II. Skeletala. Syndactyly-brachydactylyb. Absence or hypoplasia of ribc. Hemivertebrad. Absence or hypoplasia of radius, ulna, carpal, metacarpal, phalangee. Finger webbingf. Sprengel's deformityIII. Skina. Cafe-au-lait pigmentationb. Absence of nipplesc. Webbing of axillad. Absence of subcutaneous tissue

IV. Genitourinarya. Renal aplasia or hypoplasia (Temtamy and McKusick, 1969;

Mace et al, 1972)b. Pyelonephritis (Temtamy and McKusick, 1969)c. Undescended testes

V. Othersa. Herniation of lung (Ehrenhaft et al, 1966)b. Acute lymphoblastic leukaemia (Mace et al, 1972)c. Absence of the breast or asymmetryd. Hemifacial atrophye. Dextrocardia (not previously reported)

Metabolic Bone Dysplasia and Genetic Clinic andUSC Hand Clinic, Orthopaedic Hospital,

Los Angeles, California, USA

REFERENCES

Danis, P. (1945). Les paralysies oculo-faciales congenitales.Ophthalmologica, 110, 113.

Ehrenhaft, J. L., Rossi, N. P., and Lawrence, M. S. (1966). De-velopmental chest wall defects. Annals of Thoracic Surgery, 2,384-398.

Evans, P. R. (1955). Nuclear agenesis. Mobius' syndrome.Archives of Disease in Childhood, 30, 237-243.

Furst, C. M. (1900). Ein Fall von verkurzten und zweigliedrigenFingern, begleitet von Brustmuskeldefecten und anderen Miss-bildungen. Zeitschrift fur Morphologie und Anthropologie, 2, 56-76.

Gorlin, R. J. and Pindborg, J. J. (1964). Syndromes of the Head andNeck. McGraw-Hill, New York.

Graefe, A. von (1880). In Handbuch dergesammten Augenheilkunde,ed. by A. von Graefe and T. Saemisch, 6, ch. 11. W. Englemann,Leipzig.

Hanson, P. A. and Rowland, L. P. (1971). Mobius syndrome andfacioscapulohumeral muscular dystrophy. Archives of Neuro-logy, 24, 31-39.

Hellstrom, B. (1949). Congenital facial diplegia. Acta Paediatrica,37, 464-473.

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196 CaseHenderson, J. L. (1939). The congenital facial diplegia syndrome.

Brain, 62, 381-403.Jorgenson, R. J. (1971). Mobius syndrome, ectrodactyly, hypopla-

sia of tongue and pectoral muscles. In The Third Conference onClinical Delineation of Birth Defects, pt. 11, pp. 283-284. TheNational Foundation-March of Dimes, New York.

Mace, J. W., Kaplan, J. M., Schanberger, J. E., and Gotlin, R. W.(1972). Poland's syndrome. Report of seven cases and reviewof literature. Clinical Pediatrics, 11, 98-102.

Mobius, P. J. (1888). OYber angeborenene doppelsetige Abducens-Facialis-Liihmung. Munchener Medizinische Wochenschrift, 35,91-94.

Poland, A. (1841). Deficiency of the pectorial muscles. Guy'sHospital Reports, 6, 191-193.

Richards, R. N. (1953). The Mobius syndrome. Journal of BoneandJoint Surgery, 35A, 637-644.

Takeda, M., Suda, Y., Komatsu, S., and Wada, J. (1967). Surgicaltreatment of congenital chest wall defects associated withcongenital deformity of hand. japanese journal of ThoracicSurgery, 20, 559-562.

Temtamy, S. and McKusick, V. (1969). Synopsis of hand mal-formation with particular emphasis on genetic factors. InBirth Defects: Original Article Series, 5, pt. 3, 125-184. TheNational Foundation-March of Dimes, New York.

FIG. 1. Profile of the proposita revealing 'bird-headed' facies, lobe-less ears, micrognathia, and pro-optosis.

Familial Bird-headed Dwarfism(Seckel's Syndrome)

Summary. Low birth weight dwarf-ism with mental retardation, large eyes, abeaklike nose, narrow face, recedingmandible, and dental anomalies are thespecific features of 'bird-headed dwarf ofSeckel'. The following case report pre-sents details of a Seckel dwarf withfamilial occurrence of the trait and, thussupports an autosomal recessive mode ofinheritance. In addition, the possiblesignificance of dental alterations isnoted.

Case ReportThe proposita is a 46-month-old negro who possessed

the clinical syndrome of Seckel's bird-headed dwarfism;the familial occurrence of the trait in three sibs is alsoincluded.The patient was born 2 May 1969 in Osceola, Arkansas.

The child weighed 1308 g at birth and 40 weeks' gesta-tion. To date the patient presented as severely retarded,and weighing 4578 g.The proposita had microcephaly and oxycephaly, with

pro-optosis of the eyes, nystagmus, and lobeless ears(Fig. 1). Marked micrognathia was noted as was acentral posterior cleft of the palate (Fig. 2). The denti-tion revealed severe hypoplasia of enamel in the primarydentition; however primary second molars showed no

Received 15 January 1973.

FIG. 2. Intra-oral view revealing posterior cleft palate and hypo-plastic enamel defects of the primary dentition. The changes on thecentral incisor have been clinically modified for a restoration.

altered morphology and appeared to be radiographicallynormal with regard to morphology, location, and se-quence of development. A hyperostotic ridge could bepalpated along the sagittal sinus. The head was 30 cmin circumference.Hip abduction was almost impossible and the ex-

tremities revealed scissoring and deep tendon reflexeswith hyperactivity. The radiological examination notedcongenital dislocation of the right hip, thinness of alllong bones, and scoliosis of the thoracolumbar spine.The skin was free of rashes or petechiae. The nose

and throat were clear and benign except for a midlineposterior cleft of the hard palate. The thyroid was notenlarged. The chest was symmetrical and shield-shaped with a measurement of 28 cm.The heart was not enlarged and showed regular sinus

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