Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder caused by mutations of the transforming growth factor (TGF)-β receptors. It is an autosomal dominant syndrome characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We treated an 18-year-old woman with a 100-mm-diameter aortic root aneurysm and severe aortic v...

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndro...

Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts. Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome. He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing a...

A six-month-old girl who presented with dermatitis was found to have multiple, symmetric, deep, gyrate skin folds involving her trunk and similar circumferential lesions on her extremities since birth. She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck. Skin biopsy demonstrated increased smooth muscle f...

Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associat...

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; sh...

We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. The karyotype was 46, XY, rec(22) dup(22q) inv(22)(p11q13)pat. The duplicated segment (q13.1 -->qter), a result of an unbalanced recombi...

The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missense mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and d...

Craniometaphyseal dysplasia (CMD) is a rare congenital bone dysplasia with abnormal bony overgrowth leading to characteristic facial features and cranial nerve compression. We present a 10-year-old child with bony swelling at the nasal root since birth along with decreased hearing in both ears. She had normal developmental milestones and intelligence. On examination, she had bossing of forehead...

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagitta...