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PubMed1975

New syndromes of mental retardation.

During a survey of a selected group of residents of an institution for the mentally retarded, four previously undescribed syndromes were found. They were characterized as follows: cerebral maldevelopment, dwarfism and cataracts (autosomal recessive inheritance); cerebral maldevelopment, dwarfism and facial osteoproliferation (autosomal recessive inheritance); cerebral maldevelopment and colobomata (autosomal recessive inheritance); and cerebral maldevelopment and acrocephaly (X-linked recessive inheritance).

Abnormalities, Multiple↗

PubMed1992

Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?

In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. We discuss the relationship between this combination of clinical signs and symptoms most compatible with the diagnosis of Summitt syndrome and the Carpenter syndrome.

Acrocephalosyndactylia↗

PubMedDate not supplied

Apert syndrome.

A case of Apert syndrome in a male child of 5 months old has been reported. The diagnosis was based on the clinical appearance (phenotype) showing acrocephaly and syndactyly of both hands and feet, supported by skull roentgenography and ultrasonography. The patient was the third child from normal parents, and the two other children were normal. Apert syndrome is a genetic dominant autosomal disease; and because there were no other sufferer from the family history, the occurrence of this syndrome has been caused by a new mutation. Symptomatic therapy such as the administration of acetazolamide for hydrocephalus and vitamin supplement to improve his general condition, and even physical physiotherapy have been carried out. Genetic counselling to the couple has been provided as well.

Acrocephalosyndactylia↗

PubMed1989

[Amaurosis congenita (Leber) with severe genital developmental delay].

Report of a boy aged 16 years with LEBER's congenital amaurosis, which is associated with typical nystagmus and further severe general retardation, including ossification, imbecillity, acrocephaly, dysraphia and cardiomyopathia.

Adolescent↗

PubMed1977

[Carpenter's syndrome].

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.

Abnormalities, Multiple↗

PubMedDate not supplied

[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].

Part I - A case of acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2-year-old male child. This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence. Our patient, instead, shows a middle degree of psychomotor delay. The family pedigree confirms an autosomal dominant inheritance mode. Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and acrocephalosyndactyly syndromes is discussed. Neurosurgical assessment is mandatory in order to avoid cerebral and ocular damage due to chronically increased intracranial pressure. Part II - The Authors present some concepts on the surgical treatment of the craniofacial stenosis. A great importance is given to an early diagnosis and surgical treatment: to make this possible it is necessary to have some Hospital Centers really very specialized. The treatment of a child affected by Syndrome of Pfeiffer is described, giving more evidence to the operative technique and to its reasons.

Acrocephalosyndactylia↗

PubMed1996

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].

Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome.

Acrocephalosyndactylia↗

PubMed1977

[Craniosynostosis: a review of 14 cases (author's transl)].

Fourteen cases of single and polimalformative craniosynostosis are presented. A Crouzon's syndrome, and Apert's syndrome and a Carpenter's syndrome are included. On the cranial deformities, 7 cases of scaphocephaly, 4 cases of oxycephaly and 3 cases of acrocephaly were diagnosed. The eye abnormalities, the mental retardation and the intracranial hyperpressure symptomatology were analyzed. A lineal descompresive craniectomy was performed in 10 cases. The applied surgical criterium was the appearing of intracranial hyperpressure. The postoperative results upon the clinical symptomatology and the cranial deformity are commented, showing a real improve of the hyperpressure symptoms in all the cases, a correction of the scaphocephalic defect and a lack of effect on those clinical manifestations resulting from the cerebral damming. Finally, the timing of operation is discussed.

Child, Preschool↗

PubMed1998

Carpenter syndrome: report of two siblings.

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, i.e. frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.

Abnormalities, Multiple↗

PubMed1950