Abstract
Two male siblings are described with a clinical and molecular diagnosis of X-linked Opitz (G/BBB) syndrome and the previously unreported feature of neonatal mandibular incisors.
MeSH terms
-
Abnormalities, Multiple / genetics*
-
Abnormalities, Multiple / pathology
-
Child, Preschool
-
Cleft Lip / pathology
-
Cleft Palate / pathology
-
Codon, Nonsense / genetics
-
Facies
-
Family Health
-
Female
-
Genetic Diseases, X-Linked / genetics*
-
Genetic Diseases, X-Linked / pathology
-
Humans
-
Hypertelorism / pathology
-
Hypospadias / pathology
-
Incisor / abnormalities*
-
Infant
-
Infant, Newborn
-
Male
-
Microtubule Proteins / genetics
-
Natal Teeth / pathology*
-
Nuclear Proteins / genetics
-
Syndrome
-
Transcription Factors / genetics
-
Ubiquitin-Protein Ligases
Substances
-
Codon, Nonsense
-
Microtubule Proteins
-
Nuclear Proteins
-
Transcription Factors
-
MID1 protein, human
-
Ubiquitin-Protein Ligases