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Neonatal Marfan Syndrome with Congenital Arachnodactyly, Flexion Contractures, and Severe Cardiac Valve Insufficiency

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Neonatal Marfan Syndrome with Congenital Arachnodactyly, Flexion Contractures, and Severe Cardiac Valve Insufficiency J Med Genet: first published as 10.1136/jmg.28.4.267 on 1 April 1991. Downloaded from JMedGenet 1991; 28: 267-273 267 Case reports Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency Inge M Buntinx, Patrick J Willems, Silja E Spitaels, Patrick J Van Reempst, Anne M De Paepe, Jan E Dumon Abstract described by Marfan.4 This led to the delineation of a We describe a male neonate with severe arachno- new syndrome, congenital contractural arachno- dactyly, hypermobility of the fingers, flexion dactyly (CCA) or Beals syndrome (McKusick 12105), contractures of elbows, wrists, hips, and knees, which is characterised by congenital contractures of micrognathia, crumpled ears, rockerbottom feet, the elbows, knees, hips, and fingers (camptodactyly), loose redundant skin, and ocular abnormalities. arachnodactyly with ulnar deviation of the fingers, Severe cardiac valve insufficiency and aortic dila- kyphoscoliosis, adducted thumbs, crumpled ears, tation resulted in cardiac failure and death 20 hours micrognathia, knobbly appearance of the joints owing after birth. This case represents the severe end of to absence ofsubcutaneous fat, and muscle hypoplasia the clinical spectum of Marfan syndrome. As (especially of the calf muscles).3 7 In view of the similar patients have been reported, they may similarities between the Marfan and Beals syndromes represent a separate mutation. it has been suggested that they might represent variations of the same genetic entity.2 http://jmg.bmj.com/ At one end of a wide clinical spectrum there are Marfan syndrome is an autosomal dominant disorder mildly affected patients who can be difficult to mainly affecting the skeletal system (arachnodactyly, diagnose. At the other end there are several patients tall stature, anterior chest and vertebral column with severe prenatal clinical manifestations. This case deformities), the cardiovascular system (dilatation or report represents one of the rather small group of dissection of the aorta and mitral valve prolapse), and severely affected children with lethal outcome before the ocular system (ectopia lentis and myopia).' 2 the age of 2 years. Beals and Hecht3 noticed that some oftheir patients on September 26, 2021 by guest. Protected copyright. with Marfanoid characteristics also showed congenital contractures, and they identified similar patients in published reports, including the original patient Case report HISTORY The male proband was born at 39 weeks' gestation. Department of Medical Genetics, University of Antwerp The mother was a healthy, 28 year old primigravida. UIA, Universiteitsplein 1, 2610 Wilrijk, Belgium. She was using oral contraceptives at the time of I M Buntinx, P J Willems, J E Dumon conception. The father was an unrelated 41 year old Department of Paediatrics, University of Antwerp, man with a healthy 21 year old daughter from a Belgium. former marriage. He was on interferon treatment for S E Spitaels, P J Van Reempst hepatitis B. This pregnancy had been uneventful until fetal cardiomegaly and aortic dilatation were noticed Department of Medical Genetics, University of Ghent, on routine Belgium. ultrasonography at 35 weeks' gestation. A M De Paepe Therapeutic action was not undertaken. Immediately after spontaneous delivery the neonate had to be Correspondence to Dr Buntinx. resuscitated, intubated, and ventilated artificially. Received for publication 9 August 1990. Owing to severe impairment of the cardiovascular Accepted for publication 7 September 1990. circulation the child died 20 hours after birth. J Med Genet: first published as 10.1136/jmg.28.4.267 on 1 April 1991. Downloaded from 268 Buntinx, Willems, Spitaels, Van Reempst, De Paepe, Dumon PHYSICAL EXAMINATION measurement was impaired by joint contractures At examination shortly after birth, OFC was 36-5 cm (knees, hips, elbows, wrists). The child showed (between the 50th and 97th centile), weight was 3400 several dysmorphic features. Severe arachnodactyly g (50th centile), length was 55 cm (above the 97th was present in both hands and feet (figs 1 and 2). centile), and span was approximately 50 cm. Birth Middle finger length was 3-5 cm and palm length 4 length and span were probably underestimated as cm on both sides. Foot length was 9 0 cm (right) and 9-2 cm (left) (50th centile=7-9 cm). The finger joints showed hyperlaxity. Bilateral rockerbottom feet with long toes and symmetrical clinodactyly of the third toes and to a lesser extent the fourth toes were present (figs 2 and 3). Flexion contractures of both hips, elbows, knees, and wrists were obvious (fig 1). The skin was loose and abundant, creating a senile look to the facies. The ears were crumpled with hypoplastic cartilage of the helix (fig 4). Absence of subcutaneous fat and hypoplasia of the calf muscles (figs 1 and 2) 1/ were noticed. The sclerae had a slightly blue dis- i colouration. There were no abnormalities of the nails or hair and, apart from bilateral cryptorchidism, the 1. external genitalia appeared normal. http://jmg.bmj.com/ k ~ ~~~~~~~~~~~-i.. i Figure I Patient one hour after death. Note senile appearance, arachnodactyly, contractures ofelbows, hips, wrists, and knees, Figure 3 Bilateral clinodactyly ofthird toe. thumb adduction, redundant, loose skin and knobbly appearance ofjoints owing to absence ofsubcutaneousfat and muscle on September 26, 2021 by guest. Protected copyright. hypoplasia. Figure 2 Rockerbottomfeet uith arachnodactyly, overlapping toes, and hypoplasia ofcalfmuscles. F4we 4 Crumpkd ear with hypoplastic cartilage - J Med Genet: first published as 10.1136/jmg.28.4.267 on 1 April 1991. Downloaded from Neonatal Marfan syndrome 269 CARDIOLOGICAL EXAMINATION cohesion between collagen fibres. Partial absence of The child's heart was hyperactive and a diffuse thrill the musculus dilator pupillae and amaurotic cylin- could be felt over the whole praecordium. A systolic- drical epithelia were found in the periphery ofthe iris. diastolic mumur was heard radiating into the neck. The corneae and lenses were normal. The ciliary Signs of marked dilatation of both atria and biventri- processes were reduced in number and hypoplastic. cular hypertrophy were noticed on an electrocardio- Electron microscopic studies of the aortic wall and gram. Radiological examination of the chest showed skin showed collagen fibres with great variation in extreme cardiomegaly with the heart filling almost the width and a reduced amount of elastin filaments. whole thorax. On echocardiography all heart Neuropathological examiation was normal, except chambers were found to be grossly dilated. The for atypical polymicrogyry of the brain. Further pulmonary and aortic roots were particularly large macroscopic and microscopic investigations of the with aneurysmal dilatation of the left coronary artery. other organs were all normal. There was marked prolapse of both mitral and tricuspid valves. Doppler examination showed severe insufficiency of all four heart valves. LABORATORY STUDIES Chromosome analysis showed a normal male karyo- type, 46,XY. Homocystine concentration in urine and blood was normal. Biochemical collagen studies of RADIOLOGICAL EXAMINATION skin This included A skeletal survey showed arachnodactyly of all fingers fibroblasts were all normal. ratios and toes, clinodactyly of the third and fourth toes, of collagen types I, III, and V, and electrophoretic and flaring of the metaphyses of the long bones, mobility of al(I), a2(I), and al(III) chains (Dr B especially of the humerus and the femur. Steinmann, Zurich). EXAMINATION OF THE PROBAND'S PARENTS NECROPSY STUDIES Both for the of Necropsy showed a grossly enlarged heart with parents were examined presence dilatation of all four heart cavities. The heart valves Marfanoid features. The father's height was 1-76 m the 1-71 m were very dysplastic and showed signs of prolapse (fig (25th centile) and mother's was (50th not 5). The chordae tendinae were abnormally inserted centile). Physical examination did show arachno- or other and were too long. Severe dilatation of the dysplastic dactyly, dolichostenomelia, features of the aorta and pulmonary artery caused failure of the valve Marfan syndrome. Radiological examination of the leaflets to coapt (fig 5). Microscopic examination of spine, thorax, and extremities, including measure- http://jmg.bmj.com/ the heart showed pronounced myxoid degeneration of ment of the metacarpal index, were normal in both the arterial wall with presence of lacunae and frag- parents. Ophthalmological examination showed slight in mentation of elastic laminae. There was myxoid myopia and congenital nystagmus the mother and degeneration of the atrioventricular valves. The colour blindness (red-green pigment) in the father. myocardium showed interstitial oedema with dilated Heart auscultation, electrocardiogram, and echo- vessels and sinusoids between the muscle bundles. cardiographic examination were normal in the father. In Ophthalmological studies showed a bluish colour of the mother a 2/6 systolic murmur was heard on on September 26, 2021 by guest. Protected copyright. the anterior sclerae. Both sclerae were thinner than auscultation. While the electrocardiogram was normal and showed intercellular gaps with reduced normal, the echocardiographic examination showed a systolic prolapse of the anterior mitral valve. Discussion Severe cardiovascular manifestations resulting in cardiac failure and death in the neonatal period, as in our patient, are unusual in Marfan syndrome.8-'0
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