Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism

Genetic Counseling

Volumn 12, Issue 3, 2001, Pages 231-235

  Stoll, C ^a   De Saint Martin, A ^a   Donato, L ^a   Alembik, Y ^a   Sauvage, P ^a   Messer, J ^a  

^a HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

Hamartoblastoma; Hypopituitarism; Imperforate anus; Laryngeal stenosis; Pallister Hall syndrome; Polydactyly

Indexed keywords

ARTICLE; BRAIN SCINTISCANNING; BRONCHOSCOPY; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; HUMAN; LARYNX STENOSIS; MALE; MENTAL DEVELOPMENT; MICROPENIS; NEWBORN; PALLISTER HALL SYNDROME; TRACHEOSTOMY;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CONSTRICTION, PATHOLOGIC; CRICOID CARTILAGE; HAMARTOMA; HUMANS; HYPOPITUITARISM; HYPOTHALAMIC DISEASES; INFANT, NEWBORN; MALE; PENIS; POLYDACTYLY; SYNDROME;

EID: 0034785245     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Pallister Hall syndrome
2. Pallister-Hall syndrome in siblings - A case report and review of the literature
3. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome)
4. GLI 3 frameschif mutations cause autosomal dominant Pallister-Hall syndrome
5. Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome
6. Autosomal dominant transmission of the Pallister-Hall syndrome
7. Familial Pallister-Hall syndrome: Case report and hormonal evaluation
8. Reccurence of Pallister-Hall syndrome in two sibs
9. Autosomal dominant transmission of the Pallister-Hall syndrome
10. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome