title: [Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].
abstract: The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.
authors.affiliation: Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles.
authors.forename: C
authors.initials: C
authors.lastname: Elmer
authors.forename: G
authors.initials: G
authors.lastname: Van Vliet
authors.forename: C
authors.initials: C
authors.lastname: Heinrichs
authors.forename: M
authors.initials: M
authors.lastname: Toppet
authors.forename: C
authors.initials: C
authors.lastname: Christophe
authors.forename: N
authors.initials: N
authors.lastname: Perlmutter-Cremer
authors.forename: E
authors.initials: E
authors.lastname: Vamos
mesh_terms: D000015:Abnormalities, Multiple; D001847:Bone Diseases; D001927:Brain Diseases / Q000175:diagnosis; D006130:Growth Disorders; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007674:Kidney Diseases; D008279:Magnetic Resonance Imaging; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities; D011596:Psychomotor Disorders; D013577:Syndrome
chemical_list: D013006:Growth Hormone
vernacular_title: Nanisme à membres courts, dysmorphisme, dysplasie rénale, déficience en hormone de croissance avec hypoplasie pituitaire et retard psychomoteur: un nouveau syndrome?