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

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

Tumor risk

Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma and hepatocellular carcinoma has been described in patients with SGBS

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

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

Hypospadias

These three features have been reported in a low percentage of the patients

Cryptorchidism

Penoscrotal transposition

Index finger

Hypoplasia

Proximal phalanx

Congenital abnormality

Syndactyly

2nd-3rd finger

Rib malformations

Frequent

Sella turcica

Deep V-shaped

Six lumbar vertebrae

Exceptional

Hydrocephalus

Epilepsy

Obstructive sleep apnea syndrome

Attention deficit hyperactivity disorder

Distorted articulation

Distorted resonance has been also described

Fluency failures

Stereotype prosody

Neck

Laryngeal web and airway swallow