Dwarfism and Cortical Thickening of Tubular Bones

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

“…Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS. However, our patient also demonstrated features characteristic of KCS2: partial anodontia of permanent teeth and medullary stenosis of maxilla and jaw, both described as oral findings (Moussaid et al, 2012), and transient hypocalcemia (Table S1), characteristic of the syndrome (Caffey, 1967; Kenny, 1966). A functional relationship between FAM111A and TBCE has been suspected due to the phenotypic overlap between KCS and SSS (Unger et al, 2013).…”

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

“…Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS. However, our patient also demonstrated features characteristic of KCS2: partial anodontia of permanent teeth and medullary stenosis of maxilla and jaw, both described as oral findings (Moussaid et al, 2012), and transient hypocalcemia (Table S1), characteristic of the syndrome (Caffey, 1967; Kenny, 1966). A functional relationship between FAM111A and TBCE has been suspected due to the phenotypic overlap between KCS and SSS (Unger et al, 2013).…”

Bilateral optic atrophy in Kenny's syndrome

“…Fundus examination showed bilateral pallor of Ocular abnormalities are common in Kenny-caffey syndrome, being found in 73% of patients. A high degree of hyperopia and microophthalmia were the most consistent ocular findings (Kenny & Linarelli 1966;Boynton et al 1979;Sarria et al 1980;Majewsky et al 1981;Larsen et al 1985; Fan-l a i b…”

Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed

“…In 1992, Francheschini et al reviewed 28 patients with KCS including the original reports of Kenny and Linerelli [1966] and Caffey [1967]. The clinical, biochemical and radiological findings are compared with the data available in the present study (Table I).…”

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

“…Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS. However, our patient also demonstrated features characteristic of KCS2: partial anodontia of permanent teeth and medullary stenosis of maxilla and jaw, both described as oral findings (Moussaid et al, 2012), and transient hypocalcemia (Table S1), characteristic of the syndrome (Caffey, 1967; Kenny, 1966). A functional relationship between FAM111A and TBCE has been suspected due to the phenotypic overlap between KCS and SSS (Unger et al, 2013).…”

Bilateral optic atrophy in Kenny's syndrome

“…Fundus examination showed bilateral pallor of Ocular abnormalities are common in Kenny-caffey syndrome, being found in 73% of patients. A high degree of hyperopia and microophthalmia were the most consistent ocular findings (Kenny & Linarelli 1966;Boynton et al 1979;Sarria et al 1980;Majewsky et al 1981;Larsen et al 1985; Fan-l a i b…”

Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed

“…In 1992, Francheschini et al reviewed 28 patients with KCS including the original reports of Kenny and Linerelli [1966] and Caffey [1967]. The clinical, biochemical and radiological findings are compared with the data available in the present study (Table I).…”

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

“…Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS. However, our patient also demonstrated features characteristic of KCS2: partial anodontia of permanent teeth and medullary stenosis of maxilla and jaw, both described as oral findings (Moussaid et al, 2012), and transient hypocalcemia (Table S1), characteristic of the syndrome (Caffey, 1967; Kenny, 1966). A functional relationship between FAM111A and TBCE has been suspected due to the phenotypic overlap between KCS and SSS (Unger et al, 2013).…”

Bilateral optic atrophy in Kenny's syndrome

“…Fundus examination showed bilateral pallor of Ocular abnormalities are common in Kenny-caffey syndrome, being found in 73% of patients. A high degree of hyperopia and microophthalmia were the most consistent ocular findings (Kenny & Linarelli 1966;Boynton et al 1979;Sarria et al 1980;Majewsky et al 1981;Larsen et al 1985; Fan-l a i b…”

Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed

“…In 1992, Francheschini et al reviewed 28 patients with KCS including the original reports of Kenny and Linerelli [1966] and Caffey [1967]. The clinical, biochemical and radiological findings are compared with the data available in the present study (Table I).…”