The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): Four additional patients without mental retardation and review of the literature

We report on four patients with tricho‐rhino‐phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delination of the phenotype and document the variability of the clinical and radiographic manifestations. I...

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Veröffentlicht in:	American journal of medical genetics 1984-09, Vol.19 (1), p.81-112
Hauptverfasser:	Langer Jr, Leonard O., Krassikoff, Natalie, Laxova, Renata, Scheer-Williams, Mary, Lutter, Lowell D., Gorlin, Robert J., Jennings, Charles G., Day, Donald W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics acrodysplasia with exostoses Adolescent Adult bone dysplasia Child Child, Preschool chromosome abnormality Chromosome Deletion cone-shaped epiphyses dominant inheritance Exostoses - complications Exostoses - diagnosis Female Humans In Vitro Techniques Intellectual Disability - complications Langer-Giedion syndrome mental retardation multiple cartilaginous exostoses multiple congenital anomalies (MCA) syndrome Phenotype Syndrome tricho-rhino-phalangeal syndrome with exostoses
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