A Hereditary Syndrome: "Dysplasia Oculodentodigitalis"

Neurological manifestations of the oculodentodigital dysplasia syndrome

“…s Neurophysiological and laboratory investigations Gillespie found generalized slowing in the EEG of one patient [23], which is similar to the slowing in our patient. Another patient with bilateral occipital slowing in EEG and epilepsy has been reported [61].…”

Neurological manifestations of the oculodentodigital dysplasia syndrome

“…s Neurophysiological and laboratory investigations Gillespie found generalized slowing in the EEG of one patient [23], which is similar to the slowing in our patient. Another patient with bilateral occipital slowing in EEG and epilepsy has been reported [61].…”

Anophthalmia in the Focal Dermal Hypoplasia Syndrome

“…Only four reports of this syn¬ drome are described in the ophthalmic literature. 36 The case of one of these patients was reported by us in 1977 (case l)3 and was also reported in the dermatologie literature.7 The abnor¬ malities in this patient included con¬ genital anomalies of the skin, mouth, feet, hands, fingernails, and sensorineural hearing system. In addition, the patient appeared clinically anophthalmic with papillomatous lesions arising from the eyelid margins.…”

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

“…The vast majority of ODDD cases described in the literature show an autosomal dominant inheritance pattern and high phenotypic variability [Shapiro et al, 1997;Loddenkemper et al, 2002]. Up to date, 11 patients from 6 families with autosomal recessive ODDD have been reported [Gillespie, 1964;Beighton et al, 1979;Traboulsi et al, 1986;Frasson et al, 2004;Pizzuti et al, 2004;Richard- , 2006], but only 2 of these cases were confirmed by molecular analysis. Pizzuti et al [2004] detected the R76H homozygous missense variant in one of these patients, while Richardson et al [2006] defined the R33X homozygous nonsense variant in the GJA1 gene in the second case.…”

Neurological manifestations of the oculodentodigital dysplasia syndrome

“…s Neurophysiological and laboratory investigations Gillespie found generalized slowing in the EEG of one patient [23], which is similar to the slowing in our patient. Another patient with bilateral occipital slowing in EEG and epilepsy has been reported [61].…”

Anophthalmia in the Focal Dermal Hypoplasia Syndrome

“…Only four reports of this syn¬ drome are described in the ophthalmic literature. 36 The case of one of these patients was reported by us in 1977 (case l)3 and was also reported in the dermatologie literature.7 The abnor¬ malities in this patient included con¬ genital anomalies of the skin, mouth, feet, hands, fingernails, and sensorineural hearing system. In addition, the patient appeared clinically anophthalmic with papillomatous lesions arising from the eyelid margins.…”

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

“…The vast majority of ODDD cases described in the literature show an autosomal dominant inheritance pattern and high phenotypic variability [Shapiro et al, 1997;Loddenkemper et al, 2002]. Up to date, 11 patients from 6 families with autosomal recessive ODDD have been reported [Gillespie, 1964;Beighton et al, 1979;Traboulsi et al, 1986;Frasson et al, 2004;Pizzuti et al, 2004;Richard- , 2006], but only 2 of these cases were confirmed by molecular analysis. Pizzuti et al [2004] detected the R76H homozygous missense variant in one of these patients, while Richardson et al [2006] defined the R33X homozygous nonsense variant in the GJA1 gene in the second case.…”

Neurological manifestations of the oculodentodigital dysplasia syndrome

“…s Neurophysiological and laboratory investigations Gillespie found generalized slowing in the EEG of one patient [23], which is similar to the slowing in our patient. Another patient with bilateral occipital slowing in EEG and epilepsy has been reported [61].…”

Anophthalmia in the Focal Dermal Hypoplasia Syndrome

“…Only four reports of this syn¬ drome are described in the ophthalmic literature. 36 The case of one of these patients was reported by us in 1977 (case l)3 and was also reported in the dermatologie literature.7 The abnor¬ malities in this patient included con¬ genital anomalies of the skin, mouth, feet, hands, fingernails, and sensorineural hearing system. In addition, the patient appeared clinically anophthalmic with papillomatous lesions arising from the eyelid margins.…”

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

“…The vast majority of ODDD cases described in the literature show an autosomal dominant inheritance pattern and high phenotypic variability [Shapiro et al, 1997;Loddenkemper et al, 2002]. Up to date, 11 patients from 6 families with autosomal recessive ODDD have been reported [Gillespie, 1964;Beighton et al, 1979;Traboulsi et al, 1986;Frasson et al, 2004;Pizzuti et al, 2004;Richard- , 2006], but only 2 of these cases were confirmed by molecular analysis. Pizzuti et al [2004] detected the R76H homozygous missense variant in one of these patients, while Richardson et al [2006] defined the R33X homozygous nonsense variant in the GJA1 gene in the second case.…”