Typus Degenerativus Amstelodamensis

Ophthalmologic Findings in the Cornelia de Lange Syndrome

“…Synophrys is apparent in 85-100% of CdLS patients. 1,[2][3][4][5][6][7][8][13][14][15][16][17]19,[21][22][23][24][25] In the present study, we found synophrys to be present in 99% of the children. Only 4 children did not have this finding.…”

“…C ornelia de Lange recognized the pattern of abnormalities later to bear her name, [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] but Brachmann probably described the syndrome 17 years earlier. [7][8]12,20,21 Thus, the syndrome also is referred to as Brachmann-de Lange, de Lange, and typus degenerativus amstelodamensis.…”

“…13,26 Characteristic findings include mental retardation, prenatal and postnatal growth retardation, and limb anomalies that range from absent digits and reduction defects of the arms and/or legs, often with a singledigit to small hands and feet with or without transverse palmar creases. 14,27 The facies commonly consist of a low anterior hairline, synophrys, long eyelashes, arched eye brows (usually secondary to a brow lift compensation for congenital ptosis), depressed nasal bridge, anteverted nares, long and smooth philtrum, thin lips, short neck, and a crescent shaped mouth with the outer corners turned down. 19,28 Other findings include congenital heart disease, cleft palate, hearing deficiency, poor verbal skills, and gastroesophageal reflux.…”

Leigh’s Disease with Clinical Manifestations of Cornelia de Lange Syndrome

“…Robinson [7] have suggested that dys morphic features such as hypertrichosis and thick bushy eyebrows with synophrys, as well as the growth retarda tion found in Cornelia de Lange syndrome could be relat ed to hypothalamic and/or pituitary damage. Schlesinger et al [14] described six cases of Cornelia de Lange syn drome and demonstrated hypopituitarism in all these cases. In our case, the hypothalamus and diencephalon had been damaged by the necrotizing lesions of Leigh's disease.…”

Oral Features in Cornelia De Lange Syndrome

“…'The characteristic flat spade-like appearance of hands and short tapering fingers, inward curving of fifth finger were described in his study. 9 Here short tapering fingers and clinodactyly of little finger was observed in the left hand. Other findings reported in the previous literature were microcephaly, strabismus, hypoplastic nipples, flexion contractures of elbows, high arched palate, macroglossia, etc.…”