Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. a new MCA/MR syndrome?
Mégarbané, A.; Abi Moussa, M.
Genetic Counseling 8(2): 127-132
1997
ISSN/ISBN: 1015-8146 PMID: 9219011 Document Number: 476139
A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before.
Document emailed within 1 workday
Related Documents
Maximilian, C.; Ioan, D.M.; Fryns, J.P. 1992: A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype? Genetic Counseling 3(2): 115-118Fryns, J.P.; Devriendt, K.; Detroch, C.; Decock, P. 1998: Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia Genetic Counseling 9(1): 51-54
Stoll, C.; Alembik, Y.; Dott, B.; Fischbach, M.; Chognot, D. 1993: Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome Genetic Counseling 4(2): 153-156
de Grouchy, J.; Gompel, A.; Salomon-Bernard, Y.; Kuttenn, F.; Yaneva, H.; Paniel, J.B.; Le Merrer, M.; Roubin, M.; Doussau de Bazignan, M.; Turleau, C. 1985: Embryonic testicular regression syndrome and severe mental retardation in sibs Annales de Genetique 28(3): 154-160
Lowry, B.; Miller, J.R.; Fraser, F.C. 1971: A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus American Journal of Diseases of Children 121(6): 496-500
Boudhina, T.; Yedes, A.; Khiari, S.; Ghram, N.; Ben Becher, S.; Makni, S.; Ben Jemaa, M.; Hamza, M. 1990: Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. a new syndrome Annales de Pediatrie 37(6): 399-403
Chen, C.P.; Lin, S.P.; Su, Y.N.; Chern, S.R.; Tsai, F.J.; Wu, P.C.; Chen, L.F.; Wang, W. 2011: A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty Genetic Counseling 22(3): 255-261
Nalin, A.; Pastorin, L.; Rota, A.; Passone, C.; Nigro, N.; Orrù, D.; Nicandro, A.; Casari, C.; Benso, L. 1980: Stature and cranial circumference in mental retardation Minerva Pediatrica 32(14): 916-917
Jokanović, R.; Nikezić, M.; Radmanović, S.; Rakić, D.; Necić, S. 1978: Short stature with assymetry (Silver's syndrome) Srpski Arhiv Za Celokupno Lekarstvo 106(2): 143-151
Petriczko, E.; Horodnicka-Józwa, A.; Prowans, P.; Biczysko-Mokosa, A.; Szmit-Domagalska, J.; Dawid, G.; Walczak, M.ła.; Zajaczek, S.ła. 2011: The "heart-hand" syndrome in a 8-year-old-boy with short stature Wiadomosci Lekarskie 64(1): 15-21
Taysi, K.; Atasu, M.; Say, B.; Bilginturan, N. 1973: Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension Turkish Journal of Pediatrics 15(2): 67-81
Verloes, A.; Lesenfants, S.; Philippet, B.; Iyawa, A.; Laloux, F.; Koulischer, L. 1996: Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome Genetic Counseling 7(4): 277-282
Aarskog, D. 1971: A familial syndrome of short stature associated with facial dysplasia and genital anomalies Birth Defects Original Article Series 7(6): 235-239
Hodapp, R.M.; Leckman, J.F.; Dykens, E.M.; Sparrow, S.S.; Zelinsky, D.G.; Ort, S.I. 1992: K-ABC profiles in children with fragile X syndrome, down syndrome, and nonspecific mental retardation American Journal of Mental Retardation: Ajmr 97(1): 39-46
Agrawal, S.P.; Dikshit, S.K.; Tandon, L. 1970: Syndrome of retarded growth, obesity, muscular hypotonia and mental retardation (Prader-Willi syndrome). Report of a case Indian Journal of Pediatrics 37(266): 105-107
Veenema, H.; Geraedts, J.P. 1984: Mental retardation and the fragile X syndrome Nederlands Tijdschrift Voor Geneeskunde 128(13): 618-621
Su, M-Tsz.; Teng, Y-Ni.; Kuo, P-Lin. 2007: Screening of Prader-Willi syndrome and Angelman syndrome in school children with moderate to profound mental retardation in southern Taiwan Acta Paediatrica Taiwanica 48(2): 73-76
Schaap, C.; Schrander-Stumpel, C.T.; Fryns, J.P. 1992: Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly Genetic Counseling 3(4): 209-215
Rhoads, F.A. 1982: X-linked mental retardation and fragile-X or marker-X syndrome Pediatrics 69(5): 668-669
Fernhall, B.; Pitetti, K.H.; Rimmer, J.H.; McCubbin, J.A.; Rintala, P.; Millar, A.L.; Kittredge, J.; Burkett, L.N. 1996: Cardiorespiratory capacity of individuals with mental retardation including Down syndrome Medicine and Science in Sports and Exercise 28(3): 366-371