Skip to main content

Table 1 Clinical findings in Simpson-Golabi-Behmel Syndrome Type I (SGBS Type I)

From: Simpson-Golabi-Behmel syndrome types I and II

1. Craniofacial features
Skull Macrocephaly in 70% of children. Craniosynostosis is observed in many of the cases
Face Square and coarse. Large forehead. Cleft lip or palate in 13% of the patients. Wide and middle groove tongue
Nose and lips large and thick
Palate Cleft palate is present in about 13% of the patients
Tongue Wide and middle groove from the tip to the back
2. Tumors
Tumor risk Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma and hepatocellular carcinoma has been described in patients with SGBS
3. Cardiovascular abnormalities
Cardiac abnormalities Any type of cardiac abnormalities are very common in SGBS
Cardiovascular malformations Altered embryonic intracardiac flow
Cardiomyopathy In about 4% of the cases
Conduction or rhythm abnormalities In a low percentage of patients
Carotid artery dissection One case has been described
ECG abnormalities In about 12% of the patients
4. Abdominal region
Visceromegaly Nephromegaly, splenomegaly and hepatomegaly is common
Congenital Diaphragmatic Hernia (CDH) Was observed in less than 10% of the cases reported
Neonatal liver disease One patient has been described. Finally developed early biliary cirrhosis
Choledochal cyst, biliary cirrhosis Only reported in 1 patient
5. Genitalia
Hypospadias These three features have been reported in a low percentage of the patients
Cryptorchidism
Penoscrotal transposition
6. Skeletal
Index finger Hypoplasia
Proximal phalanx Congenital abnormality
Syndactyly 2nd-3rd finger
Rib malformations Frequent
Sella turcica Deep V-shaped
Six lumbar vertebrae Exceptional
7. Central Nervous System (CNS)
Hydrocephalus  
Epilepsy  
Obstructive sleep apnea syndrome  
Attention deficit hyperactivity disorder  
8. Speech and language
Distorted articulation Distorted resonance has been also described
Fluency failures  
Stereotype prosody  
9. Other
Neck Laryngeal web and airway swallow