SED-brachydactyly and distinctive speech: Report of a new familial case Camila Ive Ferreira Oliveira1, Guaracy Carvalho Filho2, Antonio Soares Souza3, Agnes Cristina Fett-Conte4 1 Department of Biology, IBILCE/UNESP, São José do Rio Preto, SP, Brazil 2 Department of Orthopedics and Traumatology, Medical School, FAMERP/FUNFARME, São José do Rio Preto, São Paulo, Brazil 3 Department of Imaging, Medical School, FAMERP/FUNFARME, São José do Rio Preto, São Paulo, Brazil 4 Department of Molecular Biology, Medical School, FAMERP/FUNFARME, São José do Rio Preto, São Paulo, Brazil Summary Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome char- acterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy- phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical fea- tures of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, pecu- liar facies, and other features already reported as characteristic of this syndrome. Radiographic findings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy- dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new famil- ial case of SED-BDS. key words: SED-BDS • Tattoo dysplasia • Fantasy Island syndrome Full-text PDF: http://www.amjcaserep.com/fulltxt.php?ICID=882136 Word count: 797 Tables: 1 Figures: 3 References: 12 Author’s address: Agnes Cristina Fett-Conte, Serviço de Genética, Av. Brigadeiro Faria Lima, 5544, São José do Rio Preto, SP, CEP, 15090-000, U.S.A., e-mail: genetica@famerp.br Received: 2011.09.06 Accepted: 2011.10.27 Published: 2011.12.06 189 © The American Journal of Case Reports, 2011; 12: 189-194 Case Report WWW.AMJCASEREP.COM Background Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), also known as Fantasy Island syndrome or Tattoo Dysplasia (OMIM 611717) [1], was initially de- scribed as a “new” osteochondrodysplasia in 2 unrelated pa- tients by Cantu et al. (1991) [2] during the 8th International Congress of Human Genetics. However, the syndrome was first defined with a case reported by J. R. Gorling – Hervé Villechaize, the actor known as Tattoo in the U.S. television series “Fantasy Island”. Four years later, the 2 patients in the report by Cantu et al. in 1991 were described as having the Fantasy Island syndrome [3]. It was proposed that SED-BDS is inherited in an autosomal dominant manner, as both sexes were affected and parental consanguinity was never reported [4]. The last description was a case presented by Nunez-Reveles et al. (2009) [5] dur- ing the 59th Annual American Society of Human Genetics Meeting. We describe here a new familial case of SED-BDS that presents typical clinical and radiological features of the syndrome. This case report was approved by the Research Ethics Committee of the institution (Process no. 0447/2011). case report The propositus (Figure 1A–E), a male born in 1994, was the second child of a normal 24-year-old woman and her 27-year-old husband after an unremarkable pregnancy (40 weeks gestation) and C-section. The infant’s birth weight was 3000 g and his length was 48 cm. Neuropsychological development and language acquisition were normal. At a physical examination at age 16 years his height was 104 cm and weight was 20.8 kg (< 3rd centile). Clinically he showed disproportionately short stature, rhizo- meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syn- drome. Radiographic findings (Figure 2A–G) included shape anomalies of the vertebral bodies, such as cuboid-shaped ver- tebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, brachydactyly, lum- bar hyperlordosis, generalized osteopenia, hypoplastic iliac wings, severe long bone shortening, small epiphyses and gen- eralized delayed epiphyseal ossification. The bone age was delayed 7 years; at 15 years old it was compatible with an age of nearly 8 years for males. Ophthalmologic, cardiologic and karyotypic evaluations were normal. Table 1 shows all the clin- ical and radiological features of the propositus. His father and 2 siblings (1 male and 1 female) also showed typical clinical features of SED-BDS (Figure 3). discussion SED-BDS is a rare genetic syndrome. To our knowledge 14 cases have been described. Two unrelated patients were de- scribed by Cantú et al. (1991) [2], Garcia-Cruz et al. (2007) [4] described a mother and her son and 1 additional pa- tient, and another individual was described by Nunez-Reveles et al. (2009) [5]. However, the first description is attribut- ed to J.R. Gorling, referring to the character Tattoo in the television series “Fantasy Island” played by the actor Hervé Villechaize. In addition, a father and son reported by J. Hall [3] are believed to have the same syndrome, as well as 5 oth- er individuals reported by C. L. Johnson [6]. Here we report on a male with SED-BDS who presented near- ly all the characteristics described by Cantu et al. (1995) [3]. Besides the abovementioned features, this case presented with scoliosis, spina bifida (L5 and S1) and necrosis of the femoral head. He did not present with hypoplastic 4th ver- tebra, bilateral coxa valga, spondylolisthesis, hypertrophy of the 1st ray, cervical kyphosis or restrictive lung disease. The main differential diagnoses of SED-BDS are: acro- micric dysplasia (OMIM 102370), geleophysic dysplasia (OMIM 231050), and Moore-Federman syndrome (OMIM 127200) [2,4,6]. Acromicric dysplasia is characterized by proportionate short stature, mild and variable facial anomalies which become Figure 1. Frontal and lateral views of the patient. Note the peculiar round face with abundant eyebrows, upslanted palpebral fissures, short nose, long philtrum and round chin (A), lumbar hyperlordosis (B), short thorax (C), disproportionate short stature, rhizomesoacromelic shortness of the extremities and brachydactyly (C–E). A B D E C Case Report 190 less typical with age, hyperopia, second metacarpal proxi- mally notched on the radial side, fifth metacarpal notched on the ulnar side and others characteristic X-ray abnor- malities of the hands, ear complications, heart disease and hoarse voice [7–9]. The features of geleophysic dysplasia are proportionate short stature, ‘pleasant, happy-nature’ facial appearance, long, smooth philtrum, vascular, respiratory and heart alterations, pectus excavatum, hepatomegaly and thickened skin [9,10]. A E F G B C D Figure 2. Radiological aspects. Note flattened vertebral bodies in c-spine (A,B), cuboid-shaped vertebral bodies, mild scoliosis, lumbar hyperlordosis and spina bifida L5-S1 (C,D), thickned clavicles (E), flared iliac wings and necrosis of the femoral head (F) and generalized brachydactily, more severe in the metacarpals (G). Ferreira Oliveira CI et al – SED-BDS: A new familial case 191 Heading Subheading Feature Growth Height Disproportionate short stature Normal birth length Normal neuropsychomotor development Rhizo-meso-acromelic shortness Shortened limbs Other Progressive growth redartadion Head and neck Face Long philtrum Midface hypoplasia Peculiar facies Round face and chin Ears Small pinnae Eyes Abundant eyebrows and eyelashes Mild blepharophimosis Upslanted palpebral fissures Nose Broad and depressed nasal bridge Mouth Bulbous nose with everted nostrils Upturned nose Edge to edge bite Large mouth Thick lower lip Neck Short neck Wide neck Table 1. Clinical and radiological features of a current case by heading and subheading. Figure 3. Frontal views of the patient’s father, brother and sister presenting the same typical features of the syndrome. Case Report 192 Table 1 continued. Clinical and radiological features of a current case by heading and subheading. Heading Subheading Feature Chest External features Small thorax Pectus excavatum Thickened clavicles Skeletal Brachymetacarpalia, Brachymetatarsalia, Brachyphalangia Clinodactyly of the 5th fingers Cuboid vertebral bodies Generalized epiphyseal ossification delay Generalized osteopenia Hypoplastic iliac wings Joint limitations Limited pronosupination Lumbar hyperlordosis Necrosis of the femoral head Scoliosis Severe long bone shortening Shape anomalies of the vertebral bodies Short hands and feet Small epiphyses Spina bifida (L5 and S1) Spondyloepiphyseal dysplasia Skin, nails, hair Abundant and thick hair Dysplastic nails Hirsutism Lowset nuchal hair Voice Peculiar highpitched distinctive voice Moore-Federman syndrome, among other things, is char- acterized by hypermetropia, glaucoma, asthma and hepa- tomegaly, cardiac anomalies, a hoarse voice and abnormal skin that feels firm and thickened [11,12]. These osteodys- plasias have many clinical and radiological features in com- mon with SED-BDS, but as the signs listed above were absent in our patients, these diagnoses were discarded. conclusions The etiology of SED-BDS is still unknown. The genealogical study in this case showed that the father, brother and sister are affected too, which strongly supports the hypothesis of an autosomal dominant manner of inheritance with variable expressivity, as suggested by Garcia-Cruz et al. (2007) [4]. This is the 15th reported case and the first Brazilian case, which collaborates by delineating the clinical and radiological characterization of this rare skeletal genet- ic disorder that has an unknown molecular pathogenesis. references: 1. Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, M.D.) [Published in 2000]. Available from: URL: http://www.ncbi.nlm.nih.gov/omim?term=tattoo 2. Cantu JM, Garcia-Cruz D, Nazara Z, Renteria R et al: A ‘new’ osteochon- drodysplasia. Am J Hum Genet, 1991; 49: 161 3. Cantu JM: El syndrome da la “Isla de la Fantasia”. Individualización de una nueva osteocondrodisplasia probablemente autosómica domi- nante. Gac Méd Méx, 1995; 131: 23–26 [in Spanish] 4. Garcia-Cruz D, Zafra de La Rosa GF, Sanchez-Corona J et al: SED- brachydactyly and distinctive speech: report of two new cases. Genet Counseling, 2007; 18: 85–97 Ferreira Oliveira CI et al – SED-BDS: A new familial case 193 5. Nunez-Reveles NY et al: Spondyloepiphyseal dysplasia-bracydactyly and distinctive speech: a propos of a new male. American Society of Human Genetics, 59th Annual meeting Honolulu; 2009 Oct 20–24; Hawaii, United States 6. Lachman RS: Taybi and Lachman’s Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby/Elsevier, 2007; 1089–92 7. Faivre L, Le Merrer M, Baumann C et al: Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet, 2001; 38: 745–49 8. Le Goff C, Cormier-Daire V: Genetic and molecular aspects of acro- melic dysplasia. Pediatr Endocrinol Rev, 2009; 6: 418–23 9. Hennekam RC, van Bever Y, Oorthuys JW: Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur J Pediatr, 1996; 155: 311–14 10. Giray O, Kýr M, Bora E et al: Clinical and morphological phenotype of geleophysic dysplasia. Ann Trop Paediatr, 2008; 28: 161–64 11. Muhammed K, Nandakumar G: Moore Federman syndrome: A rare cause of pseudoscleroderma. Indian J Dermatol Venereol Leprol, 2007; 73: 257–59 12. Fell JM, Stanhope R: Reviving the Moore-Federman syndrome. Source. J R Soc Med, 1993; 86: 52–53 Case Report 194