Unilateral Microphthalmia With Congenital Anterior Synechiae and Syndactyly

Berliner, Milton L.

doi:10.1001/archopht.1941.00870160129011

Cited by 19 publications

(4 citation statements)

References 2 publications

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“…Nevertheless, Peters anomaly has been reported in association with many malformations including such seen in the present report, i.e., brachycephaly, congestive heart failure, syndactyly, genitourinary, and CNS abnormalities [Berliner, 1941;Appelmans et al, 1955;Riise 1964;Speakman and Crawford, 1965;F'ryns and Van den Berghe, 1979;Schanzlin et al, 1980;Van Schooneveld et al, 19841. The possibility that some of these reports represent a forme fruste of this syndrome cannot be disregarded.…”

Section: Discussionmentioning

confidence: 45%

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Frydman¹,

Weinstock²,

Cohen³

et al. 1991

Am. J. Med. Genet.

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Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation. Variable digital, cardiac, CNS, and urogenital anomalies were present. The inheritance is probably autosomal recessive. The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. A similar mechanism was implicated in the pathogenesis of other disorders of the anterior chamber. The presence of Peters anomaly, and possibly of other corneal endothelial disorders in a newborn infant, should alert the clinician to the possibility of this syndrome. Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.

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Section: Discussionmentioning

confidence: 45%

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Frydman¹,

Weinstock²,

Cohen³

et al. 1991

Am. J. Med. Genet.

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“…s Neuropsychological deficits Several authors have reported normal results on psychologic testing [4], normal mental development [49,55,56,64,67], and normal intelligence [2,10,26,31,35,44,50,52,53,56,65,69], but others have reported reduced intelligence [45,60,63,65,73] and mental retardation [19,31,33,58]. One patient had a speech defect [26].…”

Section: S Motor Systemmentioning

confidence: 99%

“…Thirty years earlier, Brailey [6] had described a syndrome with microphthalmia and abnormalities of the teeth, with no mention of syndactyly. Several descriptions of similar cases with incomplete features were published before 1957 [3,4,51,71]. In that year, Meyer-Schwickerath et al [40] introduced the term 'Dysplasia oculo-dento-digitalis' or ODDD, and in 1963, Gorlin et al [26] summarized the 6 known cases and defined the syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype.…”

Section: Introductionmentioning

confidence: 99%

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Neurological manifestations of the oculodentodigital dysplasia syndrome

Loddenkemper¹,

Grote²,

Evers³

et al. 2002

Journal of Neurology

157

140

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Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.

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Embryology of Microphthalmos in Rattus Norvegicus

Browman¹,

Ramsey²

1943

Archives of Ophthalmology

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Unilateral Microphthalmia With Congenital Anterior Synechiae and Syndactyly

Cited by 19 publications

References 2 publications

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Neurological manifestations of the oculodentodigital dysplasia syndrome

Embryology of Microphthalmos in Rattus Norvegicus

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