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Oto-palato-digital syndrome in an Iranian infant
D D Farhud1, G R Walizadeh, I Farhud
1Department of Human Genetics and Anthropology, Amir-Kabir Hospital, Tehran Medical Science University, Vallie Assr Sq.
Insights
This case report details a male infant with multiple congenital anomalies, including wide fontanels and skeletal dysplasia. The findings suggest a possible overlap with oto-palatal-digital syndrome types I and II.
Area of Science:
- Medical genetics
- Clinical dysmorphology
- Pediatric case study
Background:
- Oto-palatal-digital syndrome (OPD) comprises a group of X-linked dominant disorders.
- OPD syndromes are characterized by distinctive facial features, skeletal abnormalities, and digital malformations.
Observation:
- A male infant presented with a constellation of congenital anomalies: wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly, syndactyly, dysplastic bones, cryptorchidism, and hypospadias.
- The infant's mother exhibited overlapping features, including hypertelorism, micrognathia, a small nose with a depressed bridge, flat mid-face, impacted teeth, and a small chest.
Findings:
- The observed phenotype in the infant and his mother shares significant similarities with both oto-palatal-digital syndrome type I and type II.
- Specific features like hypertelorism, micrognathia, and skeletal anomalies are key indicators for differential diagnosis.
Implications:
- This case expands the phenotypic spectrum of oto-palatal-digital syndromes.
- Further genetic investigation is warranted to confirm the specific diagnosis and understand the underlying genetic mechanisms.
- Accurate diagnosis is crucial for genetic counseling and management of affected individuals.
Abstract:
A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous syndactyly of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I. The mother of this infant showed some signs of the same condition, including hypertelorism, micrognathia, small nose with depressed bridge, flat mid-face, impacted teeth and small chest. This case shows many similarities to oto-palatal-digital syndrome types I and II.