Supplementary information family 1 (patients 1-5)

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Family 1 (patients 1-5) (Figure 1)

Patient 1 was diagnosed with MFS at the age of 4 years, when bilateral ectopia lentis and mitral valve prolapse were detected. At the age of 36 years bilateral lensextraction was performed. At the age of 22 years she had a height of 175 cm (+0.7 SDS) with normal body porportions, arachnodactyly with bilateral positive wrist and thumb signs, general joint hypermobility, mild scoliosis and varicosis. She had a mild non-progressive aortic root dilatation.

Patient 2 is a younger sister of patient 1. She had progressive aortic root dilation, for which elective root replacement was performed at the age of 33 years. Prior to the aortic root surgery she delivered two children by caesarian section after uncomplicated pregnancies. She had high myopia, but no ectopia lentis. Physical examination revealed a normal height of 174.5 cm with normal body proportions. She had a long face, arachnodactyly with positive wrist and thumb signs, camptodactyly of the right fifth finger and mild scoliosis. As a child she was operated for recurrent inguinal hernias. She fulfilled the Ghent criteria for the diagnosis MFS when the mutation or a first affected family member is accounted for. Her first child (patient 3) was a boy with marfanoid build with a height of 179 cm (+1.4 SDS) at the age of 14, with an arm span/ length ratio of 1.04. He had a high arched palate with crowding of teeth, arachnodactyly, pectus carinatum, pes planus, and general joint hypermobility. No ectopia lentis was found. He had a dilated aortic root. His sister (patient 4) had a marfanoid build with a long and narrow face, high arched palate, pectus carinatum, mild scoliosis and long narrow feet with flat arches. At the age of 11 years she had a height of 185 cm with normal body proportions. Cardiologic examination showed aortic root dilatation with mitral valve prolapse. On ophthalmologic examination she had dubious ectopia lentis.

Patient 5, the sister of patient 1 and 2, had a marfanoid build with typical facial appearance, high arched palate, blue sclera, arachnodactyly, bilateral flexion contractures of the elbows, scoliosis of 32 degrees, general joint hypermobility, permanent clavicula dislocation, mild pectus excavatum and varicosis. At the age of 18 years her height was 174.6 cm (+0,8 SDS) with normal arm span and sitting height. Cardiovascular examinations showed a progressive aortic root dilatation. Apart from translucent irides she had a normal ophthalmologic examination.

The parents of patient 1, 2, and 5 had no clinical features of MFS but the mother was shown to be mosaic for the deletion.

All members of family 1 had normal intelligence.

Patient 6

Patient 6 was a high school student. She was referred for a severe pectus excavatum. Her pectus deformity was corrected by a nuss bar at the age of 14 years. At examination at the age of 17 years her height was 179.5 cm (+1.5 SDS) with normal body proportions. She had a long narrow face with downslanting palpebral fissures, a high arched palate with crowded teeth and an asymmetric nose. She had no arachnodactyly, but a severe pectus deformity, general joint hypermobility, and bilateral flat feet. She had stretch marks on the lower lumbar region (normal finding for females of this age). She had normal aortic root dimensions, but the root has a cloverleaf appearance on ultrasound examination. Ophthalmologic examination revealed a minimal lens subluxation on the right. An MRI scan of the lower spine revealed lumbosacral dural ectasia.

Patient 7

Patient 7 is a male patient presenting with hip dislocation at 3 months of age. He was treated with splints for a period of about 3 years. At the age of 8 years a severe pectus excavatum was corrected. At the age of 18 years he suffered from a pneumothorax, due to rupture of an apical bulla which had to be removed surgically. He had progressive aortic root dilation, and an elective aortic root replacement was performed at the age of 27 years. Furthermore, he had a dilatation of the pulmonary artery and the abdominal aorta. Ophthalmologic examination revealed bilateral superior lens dislocation. Physical examination showed an outspoken marfanoid habitus with a height of 201 cm (+2.4 SDS) with normal arm span and sitting height. He had a long face with high arched palate, dental crowding, general joint hypermobility, arachnodactyly with positive wrist and thumb signs, pectus excavatum and numerous striae.

Clinical examination of his parents revealed no clinical, ophthalmologic or cardiologic abnormalities.
Patient 8

This 4-year old girl presented at the age of 2.5 years with psychomotor retardation. On examination her height was 91.5 cm (-0.4 SDS) with an arm span of 91 cm (+2.6 SDS for height) and a sitting height of 52.5 cm (normal for height). She had mild facial dysmorphisms with downslanting palpebral fissures and hypertelorism. She had arachnodactyly with positive thumb and wrist signs and flat feet with long toes. Her thorax was asymmetric and she was hypotonic. Ultrasound of heart and aorta revealed billowing of the mitral valve and tricuspid valve with grade 1 regurgitation. The aortic root measurements were on the 95th percentile. Apart from translucent irides, eye examination showed no abnormalities.

Patient 9

Patient 9 presented with psychomotor retardation with non-progressive ataxia. At the age of 4 years she had joint hyperlaxity, pectus excavatum, a very pale skin and hair without other ectodermal manifestations. She had facial dysmorphisms consisting of a brachycephalic skull, long philtrum, broad nose and prognathism. She had arachnodactyly and flat narrow feet. Her height is within normal limits. At the age of 13 years her height was 164,4 cm (+0,6 SDS) with a sitting height/height ratio of -1,1 SDS. She had a normal weight. Cardiac examination revealed a mitral valve prolapse but no aortic root dilatation. Ophthalmologic examination showed anisohypermetropia but no lens dislocation.

Patient 10

Patient 10 presented at the age of 4 years because his mother was diagnosed with MFS. Physical examination showed a tall stature, mild thoracic scoliosis, pectus carinatum, hypermobility and arachnodactyly. At the age of 8 years his height was 140.7 cm (+2 SDS) and he had an arm span of 149 cm. Cardiac examination showed an aortic root on the 95th percentile and mild mitral valve insufficiency. His mother had an normal height, an aortic root dilatation, but no ophthalmologic abnormalities. The mother was not tested for the deletion.

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