Gazali-Temple Syndrome

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

“…In the early 1990s', a new distinct syndrome characterized by congenital linear skin defects associated with microphthalmia was reported in females with monosomy of the Xp22 region [Friedman et al, 1988; Al Gazali et al, 1990; Temple et al, 1990]. To date, a total of 31 different MLS patients with chromosomal abnormalities of the short arm of the X‐chromosome have been reported in the literature [Allanson and Richter, 1991; Gericke et al, 1991; Thies et al, 1991; Lindor et al, 1992; Naritomi et al, 1992; Schaefer et al, 1993; Eng et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Ogata et al, 1998; Stratton et al, 1998; Kono et al, 1999; Kayserili et al, 2001; Kutsche et al, 2002; Anguiano et al, 2003; Enright et al, 2003; Kherbaoui‐Redouani et al, 2003; Cape et al, 2004]. Few additional MLS patients with an abnormal karyotype have been described at meetings [Gericke et al, 1991; Camacho et al, 1997] and to the best of our knowledge a molecular characterization for these patients has not been performed.…”

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

“…In the early 1990s', a new distinct syndrome characterized by congenital linear skin defects associated with microphthalmia was reported in females with monosomy of the Xp22 region [Friedman et al, 1988; Al Gazali et al, 1990; Temple et al, 1990]. To date, a total of 31 different MLS patients with chromosomal abnormalities of the short arm of the X‐chromosome have been reported in the literature [Allanson and Richter, 1991; Gericke et al, 1991; Thies et al, 1991; Lindor et al, 1992; Naritomi et al, 1992; Schaefer et al, 1993; Eng et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Ogata et al, 1998; Stratton et al, 1998; Kono et al, 1999; Kayserili et al, 2001; Kutsche et al, 2002; Anguiano et al, 2003; Enright et al, 2003; Kherbaoui‐Redouani et al, 2003; Cape et al, 2004]. Few additional MLS patients with an abnormal karyotype have been described at meetings [Gericke et al, 1991; Camacho et al, 1997] and to the best of our knowledge a molecular characterization for these patients has not been performed.…”

Twin brothers with MIDAS syndrome and XX karyotype

“…They reported two girls with Xp/Yq translocation and an XX male. More cases were subsequently published [Temple et al, 1990; Allanson and Richter, 1991; Lindor et al, 1992; Naritomi et al, 1992; Happle et al, 1993; Bird et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Kobayashi et al, 1998; Ogata et al, 1998]; almost all were females. Besides our twins, two other male patients with XX karyotype have been reported [Lindsay et al, 1994; Stratton et al, 1998].…”

Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome(Microphthalmia, Dermal Aplasia, and Sclerocornea)

“…In a review of the literature, there have been 22 case reports of patients with a microdeletion at the distal Xp region. Seventeen of the reported cases were in females, 2,3 whereas 5 of them were in 46,XX males. 2,[4][5][6][7] Previous case reports have noted phenotypic variability as seen in our patients.…”

“…Features attributed to GCA, such as jaw claudication, amaurosis fugax, and an erythrocyte sedimentation rate greater than 100 mm/h, have been seen in patients with Wegener granulomatosis. [1][2][3] Like patients with GCA, patients with Wegener granulomatosis can improve with corticosteroid treatment, at least initially. However, patients with Wegener granulomatosis who are misdiagnosed as having GCA and who are treated only with corticosteroids may develop acute renal failure and respiratory tract disease.…”

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

“…In the early 1990s', a new distinct syndrome characterized by congenital linear skin defects associated with microphthalmia was reported in females with monosomy of the Xp22 region [Friedman et al, 1988; Al Gazali et al, 1990; Temple et al, 1990]. To date, a total of 31 different MLS patients with chromosomal abnormalities of the short arm of the X‐chromosome have been reported in the literature [Allanson and Richter, 1991; Gericke et al, 1991; Thies et al, 1991; Lindor et al, 1992; Naritomi et al, 1992; Schaefer et al, 1993; Eng et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Ogata et al, 1998; Stratton et al, 1998; Kono et al, 1999; Kayserili et al, 2001; Kutsche et al, 2002; Anguiano et al, 2003; Enright et al, 2003; Kherbaoui‐Redouani et al, 2003; Cape et al, 2004]. Few additional MLS patients with an abnormal karyotype have been described at meetings [Gericke et al, 1991; Camacho et al, 1997] and to the best of our knowledge a molecular characterization for these patients has not been performed.…”

Twin brothers with MIDAS syndrome and XX karyotype

“…They reported two girls with Xp/Yq translocation and an XX male. More cases were subsequently published [Temple et al, 1990; Allanson and Richter, 1991; Lindor et al, 1992; Naritomi et al, 1992; Happle et al, 1993; Bird et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Kobayashi et al, 1998; Ogata et al, 1998]; almost all were females. Besides our twins, two other male patients with XX karyotype have been reported [Lindsay et al, 1994; Stratton et al, 1998].…”

Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome(Microphthalmia, Dermal Aplasia, and Sclerocornea)

“…In a review of the literature, there have been 22 case reports of patients with a microdeletion at the distal Xp region. Seventeen of the reported cases were in females, 2,3 whereas 5 of them were in 46,XX males. 2,[4][5][6][7] Previous case reports have noted phenotypic variability as seen in our patients.…”

“…Features attributed to GCA, such as jaw claudication, amaurosis fugax, and an erythrocyte sedimentation rate greater than 100 mm/h, have been seen in patients with Wegener granulomatosis. [1][2][3] Like patients with GCA, patients with Wegener granulomatosis can improve with corticosteroid treatment, at least initially. However, patients with Wegener granulomatosis who are misdiagnosed as having GCA and who are treated only with corticosteroids may develop acute renal failure and respiratory tract disease.…”

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

“…In the early 1990s', a new distinct syndrome characterized by congenital linear skin defects associated with microphthalmia was reported in females with monosomy of the Xp22 region [Friedman et al, 1988; Al Gazali et al, 1990; Temple et al, 1990]. To date, a total of 31 different MLS patients with chromosomal abnormalities of the short arm of the X‐chromosome have been reported in the literature [Allanson and Richter, 1991; Gericke et al, 1991; Thies et al, 1991; Lindor et al, 1992; Naritomi et al, 1992; Schaefer et al, 1993; Eng et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Ogata et al, 1998; Stratton et al, 1998; Kono et al, 1999; Kayserili et al, 2001; Kutsche et al, 2002; Anguiano et al, 2003; Enright et al, 2003; Kherbaoui‐Redouani et al, 2003; Cape et al, 2004]. Few additional MLS patients with an abnormal karyotype have been described at meetings [Gericke et al, 1991; Camacho et al, 1997] and to the best of our knowledge a molecular characterization for these patients has not been performed.…”

Twin brothers with MIDAS syndrome and XX karyotype

“…They reported two girls with Xp/Yq translocation and an XX male. More cases were subsequently published [Temple et al, 1990; Allanson and Richter, 1991; Lindor et al, 1992; Naritomi et al, 1992; Happle et al, 1993; Bird et al, 1994; Lindsay et al, 1994; McLeod et al, 1994; Mucke et al, 1995; Paulger et al, 1997; Kobayashi et al, 1998; Ogata et al, 1998]; almost all were females. Besides our twins, two other male patients with XX karyotype have been reported [Lindsay et al, 1994; Stratton et al, 1998].…”

Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome(Microphthalmia, Dermal Aplasia, and Sclerocornea)

“…In a review of the literature, there have been 22 case reports of patients with a microdeletion at the distal Xp region. Seventeen of the reported cases were in females, 2,3 whereas 5 of them were in 46,XX males. 2,[4][5][6][7] Previous case reports have noted phenotypic variability as seen in our patients.…”

“…Features attributed to GCA, such as jaw claudication, amaurosis fugax, and an erythrocyte sedimentation rate greater than 100 mm/h, have been seen in patients with Wegener granulomatosis. [1][2][3] Like patients with GCA, patients with Wegener granulomatosis can improve with corticosteroid treatment, at least initially. However, patients with Wegener granulomatosis who are misdiagnosed as having GCA and who are treated only with corticosteroids may develop acute renal failure and respiratory tract disease.…”