ABSTRACT
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types, which were designated as type 1 and type 2. Type 1 ATD was characterized by the presence of radiologically irregular metaphyseal ends and histopathologically irregular cartilage bone junction with patchy distribution of physeal zone of hypertrophy. Type 2 ATD showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junctions. Examination of four patients with the "Verma-Naumoff" short rib-polydactyly syndrome showed many radiologic and pathologic features similar to those of type 1 ATD. Differential diagnosis of these three osteochondrodysplasias is discussed along with chondroectodermal dysplasia (Ellis-van Creveld), short rib-polydactyly syndrome type 1 (Saldino-Noonan), short rib-polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported by Beemer et al [1983].
Subject(s)
Asphyxia Neonatorum/classification , Osteochondrodysplasias/classification , Short Rib-Polydactyly Syndrome/classification , Thorax/abnormalities , Asphyxia Neonatorum/diagnostic imaging , Asphyxia Neonatorum/pathology , Diagnosis, Differential , Humans , Infant, Newborn , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/pathology , Radiography , Short Rib-Polydactyly Syndrome/diagnostic imaging , Short Rib-Polydactyly Syndrome/pathology , Syndrome , Terminology as TopicABSTRACT
A young woman with features resembling de Lange syndrome had a normal banded karyotype. Similar phenotypes were present in a maternal aunt and uncle. Utilizing high-resolution banding, the propositus was found to have a chromosomal abnormality characterized by dup(4p)del(9p). Using the same banding technique, her mother and two of her siblings were identified as having balanced reciprocal translocations. Chromosome studies with high-resolution banding should be performed in these instances even in the presence of a normal banded karyotype. Determining a chromosomal basis for the phenotype may lead to a significant reproductive risk in individuals with balanced chromosomal rearrangements and may afford them with the opportunity to pursue prenatal diagnosis.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 6-12 and X , De Lange Syndrome/genetics , Intellectual Disability/genetics , Adolescent , Adult , Child, Preschool , Chromosome Banding , Chromosome Disorders , Female , Genetic Counseling , Humans , Karyotyping , Male , PedigreeABSTRACT
A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.
Subject(s)
Chromosome Deletion , Intellectual Disability/genetics , Microcephaly/genetics , Sex Chromosome Aberrations/genetics , Vascular Diseases/genetics , Body Height , Child , Humans , Karyotyping , Male , Nose/abnormalities , Y ChromosomeABSTRACT
Nine children with the "happy puppet" syndrome are presented here and 19 previously reported cases are reviewed. A characteristic psychological profile is suggested by the children's "unfocused" activities and inconsistent responsiveness to their surroundings. Behavioral characteristics are atypical for mental age and do not appear to represent unusual seizure equivalents. Recognition of such non-adaptive behavior may be of importance in selecting specific treatment and management techniques to modify the characteristics of this syndrome at an early age.
Subject(s)
Child Behavior Disorders/complications , Intellectual Disability/complications , Child Behavior Disorders/psychology , Child, Preschool , Diseases in Twins , Facial Expression , Female , Humans , Infant , Intellectual Disability/psychology , Laughter , Male , Psychomotor Disorders/complications , Psychomotor Disorders/psychology , Social Behavior , SyndromeABSTRACT
We report an unusual form of chondrodystrophy identified in a female infant at birth. She was severely delayed developmentally and expired at one year of age. The dwarfism was characterized by brachymelia, dysmorphic features and unusual radiologic findings of the extremities and thorax. The spine, hand and foot X-rays were normal. The clinical and radiologic manifestations are unique and unrelated to other described entities.
Subject(s)
Dwarfism/diagnostic imaging , Extremities/diagnostic imaging , Spine/diagnostic imaging , Thorax/abnormalities , Female , Humans , Infant, Newborn , Radiography , SyndromeSubject(s)
Ectopia Lentis/genetics , Lens Subluxation/genetics , Marfan Syndrome/genetics , Skull/abnormalities , Adolescent , Adult , Child , Child, Preschool , Female , Genes, Dominant , Humans , Male , Marfan Syndrome/diagnostic imaging , Osteopetrosis/genetics , Pedigree , Radiography , SyndromeSubject(s)
Dermatoglyphics , Intellectual Disability , Laughter , Movement Disorders , Humans , SyndromeABSTRACT
A case is presented of a child with the two congenital anomalies of macrodactyly and epidermal nevus. Macrodactyly was noted at birth; nevus unius lateris became apparent at three months. The chance association of these two rare anomalies as individual sporadic occurrences is exceedingly unlikely. The case is presented as a possible syndrome entity, if other case documentation exists.
Subject(s)
Nevus/complications , Skin Neoplasms/complications , Toes/abnormalities , Adult , Axilla , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Nevus/pathology , Pregnancy , Skin Neoplasms/pathology , Toes/surgeryABSTRACT
We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976). This may be recessively inherited syndrome
