Browsing by Author "Richieri-Costa, A."

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    Pai syndrome: Report of seven South American patients
    (2007) Guion-Almeida, M. L.; Mellado, C.; Beltrán, C.; Richieri-Costa, A.
    Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance. © 2007 Wiley-Liss, Inc.
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    Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
    (2022) Lima, A.R.; Ferreira, B.M.; Zhang, C.; Jolly, A.; Du, H.; White, J.J.; Dawood, M.; Lins, T.C.; Chiabai, M.A.; van Beusekom, E.; Cordoba, M.S.; Caldas Rosa, E.C.C.; Kayserili, H.; Kimonis, V.; Wu, E.; Mellado, Cecilia; Aggarwal, V.; Richieri-Costa, A.; Brunoni, D.; Canó, T.M.; Jorge, A.A.L.; Kim, C.A.; Honjo, R.; Bertola, D.R.; Dandalo-Girardi, R.M.; Bayram, Y.; Gezdirici, A.; Yilmaz-Gulec, E.; Gumus, E.; Yilmaz, G.C.; Okamoto, N.; Ohashi, H.; Coban–Akdemir, Z.; Mitani, T.; Jhangiani, S.N.; Muzny, D.M.; Regattieri, N.A.P.; Pogue, R.; Pereira, R.W.; Otto, P.A.; Gibbs, R.A.; Ali, B.R.; van Bokhoven, H.; Brunner, H.G.; Sutton, V.R.; Lupski, J.R.; Vianna-Morgante, A.M.; Carvalho, C.M.B.; Mazzeu, J.F.
    Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.