Biomaterial Database

A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. 1994

S R Braddock, and J C Carey

University of Utah, Department of Pediatrics, Salt Lake City 84132.

We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D002658	Developmental Disabilities	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	Child Development Deviations,Child Development Disorders,Child Development Disorders, Specific,Developmental Delay Disorders,Disabilities, Developmental,Development Disorders, Child,Child Development Deviation,Child Development Disorder,Development Deviation, Child,Development Deviations, Child,Development Disorder, Child,Developmental Delay Disorder,Developmental Disability,Deviation, Child Development,Disability, Developmental
D002972	Cleft Palate	Congenital fissure of the soft and/or hard palate, due to faulty fusion.	Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D013921	Thrombocytopenia	A subnormal level of BLOOD PLATELETS.	Thrombopenia,Thrombocytopenias,Thrombopenias
D061085	Agenesis of Corpus Callosum	Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.	Absence of Corpus Callosum,Corpus Callosum Agenesis,Corpus Callosum Dysgenesis,Corpus Callosum Hypogenesis,Corpus Callosum Malformation,Corpus Callosum, Agenesis Of,Ageneses, Corpus Callosum,Agenesis, Corpus Callosum,Corpus Callosum Absence,Corpus Callosum Absences,Corpus Callosum Ageneses,Corpus Callosum Dysgeneses,Corpus Callosum Hypogeneses,Dysgeneses, Corpus Callosum,Dysgenesis, Corpus Callosum,Hypogeneses, Corpus Callosum,Hypogenesis, Corpus Callosum