J Med Genet: first published as 10.1136/jmg.23.4.364 on 1 August 1986. Downloaded from

364 Case reports

comprehensive family study Hamanishi4 found only one familial recurrence in first cousins among 56 families studied. In this study, no raised parental ages were found and only one set of parents was consanguineous. Furthermore, three sets of discor- dant twins of uncertain zygosity have been reported.4 6 With the exception of thalidomide, which is usually associated with more severe femoral defects, no consistent environmental factors have been identified. Unifactorial inheritance is most unlikely and the observed patterns of familial recurrence and twin concordance favour multifactorial inheritance : ... for simple femoral hypoplasia. We wish to thank the Wellcome Trust and the ...... National Fund for Research into Crippling Diseases ' ;'_, for financial support. :' ...... :gg..: References ...... Rogala EJ, Wynnc-Davics R. Littlejohn A, Gormicy J...... : ...... : .... ' :r:: . Congen itial limb anomalics: frequency aind iet iologicail factors. :{ ...''S'BYt.. Data fromii the Edinburgh Rcgistcr of the ncwborn (1964-1968). * Z,X',' J Med Genet 1974tt11:221-33. .5 u *.. . . . : ,.',2:/S'.'.: ' ..w:;.: 2 Ring PA. Congcnital short fcmur. Simplc fcmoral hypoplasia. J Boni(' Joiiit Surg (Br) 1959:,41:7'-9. copyright. _r -.-! aS;w *: . . :.:di .: , ..... Kclly TE. I roximail focal fcmoral deficicncy (fiamilial). Birth FIG 2 Twin 2 17 monith.s. Defects 1974 10( 12): 5)8-9. aged 4 Hlamanishi C. Congcnital short fcmur. Clinical, genctic and cpidcmiological comparison of the naturally occurring condition with that caiuscd by thalidomidc. J Botie Joinit Surg (Br) circumference of 585 cm and the absenee of 1980(:62:3)7-20. neurological findings. 5 Asch AJ. Mvcrs GJ. Bcnign familial . Report of a fa,mily and rcvicw of the litcraturc. Pediatrics 1976;57:535-40.

Discussion hVestin GW, Gunderson FO. Proximal femoral focal deficien- http://jmg.bmj.com/ cy: a review of treatment experiences. In: Aitken GT, ed. With the present report there are now four instances Proximal femoral focal deficiency. A congenital anomaly. Symposium held in Washington, June 13, 1968. Washington: of familial recurrence of congenital short femur. National Academy of Sciences, 1969:1-22. Ring2 described a pair of concordant twins with congenital short femur in 1959, but no comment was Correspondence and requests for reprints to Dr J M made about their zygosity. Kelly3 noted that a third Connor, Duncan Guthrie Institute of Medical Gene- degree relative had a curved femur, and in his tics, Yorkhill, Glasgow G3 8SJ. on September 28, 2021 by guest. Protected Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc) D T PIBTELJIC*, D VRANJESEVI1&*, S APOSTOLSKIt, AND D D PIBTELJIC* *Institutefor Neurology and Psychiatry of Childhood and Adolescence, and tClinic for Neurology, 11000 Belgrade, Yugoslavia. SUMMARY A 12 year old girl with the Poland of the left muscle, hypoplasia syndrome and the 'morning glory' syndrome is of the left , symbrachydactyly, and ipsi- described. The patient presented with absence lateral coloboma of the optic disc. This is the Received for publication 2 March 1985. first report of the association of these two Revised version accepted for publication 4 July 1985. congenital anomalies. J Med Genet: first published as 10.1136/jmg.23.4.364 on 1 August 1986. Downloaded from

Case reports 365

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FIG 1 Absence ofthe sternal portion ofthe left pectoralis FIG 2 Sxmbrachvdactvlv ofthe left hand. maj)or muscle with ipsilateral breast and nipple hypoplasia. copyright.

Poland syndrome consists of absence of the sternal portion of the pectoralis major muscle and symbrachydactyly.' 'Morning glory' syndrome2 or coloboma of the optic disc is thought to result from disturbances in closure of the embryonal optic fissure. Congenital malformations of the optic disc http://jmg.bmj.com/ are seldom specifically distinguishable without histo- logical examination, but they are usually repre- sented by specific clinical findings. We report a patient with a combination of these abnormalities involving the same side.

Case report on September 28, 2021 by guest. Protected

The patient was a 12 year old girl with signs of FiG 3 Coloboma of the optic disc. Poland syndrome on the left side and coloboma of the left optic disc. The family history was negative for both anomalies. Aplasia of the sternal portion of the left pectoralis were normal The appearance of the right fundus major muscle was associated with hypoplasia of the was normal but the left fundus showed features of breast and nipple and reduced axillary hair (fig 1). the morning glory syndrome (fig 3). Fluorescein The left arm was thinner and 2-5 cm shorter than the angiography indicated normal duration of retinal right. The middle phalanges of the fingers of the left blood vessel filling on both sides. ERG was normal hand were missing (symbrachydactyly) (fig 2). on the right but subnormal for the left eye. The right eye was myopic with a visual acuity of Neurological, neuroradiological, neuroendocrino- 6/6 -10-0. The left eye was blind, divergent, and logical, and EEG examinations revealed no abnor- raised. The visual field and colour perception were malities. Antibody titre measurement showed no normal in the right eye and intraocular pressures antibody production against CMV, rubella, HSVI, J Med Genet: first published as 10.1136/jmg.23.4.364 on 1 August 1986. Downloaded from

366 Case reports and HSV2 viruses. The karyotype was 46,XX (in References five cells). Poland A. Deficiency of the pectoralis major muscles. GusY's Hosp Rep 1841;6:191-5. Discussion Kindler F. Morning glory syndrome: unusual congenital optic disk anomaly. Am J Ophthalmol 1970:,69:376-83. 3Engberg WD. Cleft hand and pectoral aplasia. J Hand Surg Poland syndrome is often associated with other 1981;6:574-7. congenital abnormalities: hypoplasia of the breast Senrui H, Egawa T, Horiki A. Anatomical findings in the hands and nipple, reduced axillary hair, anomalies of the of patients with Poland's syndrome. Report of four cases. J Bone Joint Surg (Am) 1982;64:1079-82. bony , , cleft hand deformities,3 5lanka S. associated with Poland's syndrome. J preaxial type 1, absence of extensor Pediatr 1975 ;86:312. tendons of the hand and hypoplastic thenar Oppolzer A, Sacher M. Poland syndrom. Klin Paedr muscles,4 dextrocardia,5 skeletal and genitourinary (983;t95: 135-7. with 7Sugarman GI, Stark HH. Mobius syndrome with Poland's tract abnormalities.6 It has also been associated anomaly. J Med Genet 1973;10:192-6. Mobius7 and Pierre-Robin8 syndromes. Wood VE, Sandin C. The hand in the Pierre Robin syndrome. J 'Morning glory' syndrome is usually a unilateral Hand Surg 1983;8:273-6. occurs as a consequence of Caprioli J, Lesser RL. Basal encephalocoele and morning glory congenital defect that syndrome. Br J Ophthalmol 1983;67:349-51. developmental disturbance of the optic disc in the "' Koenig SB, Naidich TP, Lissner G. The morning glory course of the first six weeks of gestation and is syndrome associated with sphenoidal encephalocoele. Ophthal- accompanied by severely impaired or completely mnology 1982;89: 1368-73. has been associated Kawano K, Fujita S. Duane's retraction syndrome associated absent vision. This syndrome with morning glory syndrome. J Pediatr Ophthalmol 1981;18:51 with basal encephalocele9 II) and Duane's retraction -4. syndrome. l l Correspondence and requests for reprints to Dr D The aetiology of 'morning glory' syndrome and Pisteljic, Institute for Neurology and Psychiatry of the nature of its association with Poland syndrome Childhood and Adolescence, Dr Subotica 6a, 11000 remain unclear. Belgrade, Yugoslavia. copyright. Interstitial deletion of chromosome 4q diagnosed prenatally J M CAMPBELL*, J WILLIAMSt, AND G BATCUPt Departments of Obstetrics and Gynaecology* and Pathologyt, University of Leeds; and tDepartment of Cytogenetics, St James's University Hospital, Leeds. http://jmg.bmj.com/ SUMMARY The prenatal diagnosis of 4q posure, or medication in early pregnancy, was seen was made as a result of amniocentesis after 13 weeks' amenorrhoea. In the 15th week of deletion gestation the serum alphafetoprotein was found to for high serum alphafetoprotein be high on two occasions and therefore amnio- Case report centesis was performed in the 17th week. The A 27 old (husband 28 years old), a amniotic fluid AFP level was normal. However, the year primigravida fetal karyotype showed a deletion of the long arm of non-smoker with no history of illness, x-ray ex- chromosome 4. The parents chose to terminate the on September 28, 2021 by guest. Protected TABLE Characteristics of 4q deletion syndrome. pregnancy. The fetus (weighing 360 g) had a complete Previou(s cases bilateral cleft lip and palate and there were defor- Mental retardation 1() (1(5)%)' mities of the fourth finger on the right hand and the Craniofacial anomalics second toe on the left foot (fig la and b). Necropsy Mid-facial asymmetry or hypoplasia 13 (92-8%) a coarctation of the aorta and a Cleft lip 5 (35*7%) showed preductal Cleft palate 13 ( 92-8%) double superior vena cava. Micrognathia 12 ( 85-7%) Abnormal auricles 14 (11()%) Abnormalities of fingers and/or toes 13 (92 8%) CYTOGENETIC STUDIES Cardiac anomalies 11 (7836%) G banding showed an interstitial deletion in all cells as: *Cases of Townes er at6 (died at birth). Mitchell et at1 (one died at I hour, analysed. The karyotype was interpreted one died at 23 days), and Chudley et altt (reported at age of I day with no 46,XY,del(4)(pter--q21: :q27-*qter) (fig 2). This further information given) are not included. finding was confirmed in fetal skin and lung tissue obtained after termination. The karyotypes of both Received for publication 12 April 1985. Revised version accepted for publication 16 September 1985. parents were normal.