Opitz G/BBB syndrome is a rare condition characterized by three significant anomalies; hypertelorism, cleft lip and palate, and hypospadias. However, other anomalies may be associated. Herein, we report a 4-year-old child presented with penoscrotal hypospadias. On examination, hypertelorism and cleft lip and palate were noticed, suggesting a diagnosis of Opitz G/BBB syndrome. The cleft lip was corrected in the first year, and a two-staged surgical approach was implemented for penoscrotal hypospadias. In the first stage, the chordee was corrected and urethral plate was reconstructed using a tabularized incised plate urethroplasty and testicular tunica vaginalis flap. In the second stage, the remanent hypospadias was corrected, and the meatal opening reached its normal location. In conclusion, a two-staged surgical approach for the treatment of penoscrotal hypospadias associated with Opitz G/BBB syndrome may provide excellent outcomes in early-recognized cases. The urologist should pay attention to abnormal facial characteristics in patients with hypospadias.

Hypertelorism and hypospadias are the main characteristics of telecanthus-hypospadias syndrome; however, it can also include other midline structural anomalies, such as cleft lip and palate, cryptorchidism, congenital heart problem, laryngotracheal cleft, esophageal fistula, and irregular scrotum. Here, we describe an eight-year-old male who was brought to us for cleft lip repair, but upon evaluation, the other listed anomalies were discovered. He had hypertelorism, hypospadias, a ventricular septal defect, and a history of cryptorchidism. A multidisciplinary approach involved pediatricians, oral surgeons, cardiologists, and pediatric surgeons. The patient underwent surgery for first-stage hypospadias correction and was advised to follow up for additional surgery and maintenance procedures before being discharged. We wish to report this case with the aim to enlighten budding pediatricians and surgeons about this rare syndrome.

Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism.

Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported.
A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant.
We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant.

Chronic sinusitis and its complications are common in patients with cystic fibrosis. Mucoceles are one of these complications and can have life-threatening consequences if left untreated.
We present the case of a giant ethmoid mucocele leading to proptosis and hypertelorism in a 5-year-old child with cystic fibrosis.
Chronic sinusitis and its complications are common in patients with CF. Mucoceles are a rare complication of sinusitis that can be treated surgically. As seen in this case if left untreated mucoceles can lead to orbital pathologies such as proptosis, hypertelorism. To the best of our knowledge, we report the first case report of giant ethmoidal mucocele leading to proptosis and hypertelorism in a patient with cystic fibrosis.

Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly, presumptive diagnosis of GCPS is made. The purpose of this article is to report a case of GCPS with emphasis on craniofacial and oral features.

BACKGROUND: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a rare genetic disorder characterized by deletion of the distal part of 6p. Human 6p deletion syndromes result in a variety of congential malformations.
METHODS: The fetus was the fourth child born to healthy non-consanguineous parents with no relevant family history.
METHODS: The fetus was diagnosed with 6pter-p24 deletion syndrome through prenatal ultrasound, magnetic resonance imaging, and chromosomal microarray analysis. The fetus had brain, skeletal, and heart malformations. The fetus was cytogenetically normal. Chromosomal microarray analysis detected an interstitial 7.999Mb deletion within the 6p25.1p24.3 region of chromosome 6.
METHODS: There was no treatment for the fetus.
RESULTS: Pregnancy was terminated.
CONCLUSIONS: To the author\'s knowledge, the present case is one of the first to report the prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus. No published reports have described the diagnosis of 6pter-p24 deletion syndrome using multiple technologies during the antenatal period; therefore, our findings may provide a reference for other clinicians. The clinical features and pathophysiology of this prenatal diagnosis are discussed.

X-linked Opitz G/BBB syndrome (XLOS) is a multiple congenital disorder inherited in an X-linked manner. XLOS may be suspected, in prenatal age, on the basis of sonographic findings in the second and/or third trimester of gestation. Pathogenetic variants in MID1 gene have been reported in individuals with XLOS. Prenatal genetic testing is offered for pregnancies at risk, in which the mutation in the family has been identified. To date no cases of prenatal diagnosis, based on first-trimester ultrasound data, have been reported. We present a case of a fetus at 12 gestational weeks with ultrasound multiple anomalies, including increased nuchal translucency, heart defects, cleft lip and palate, enlarged fourth ventricle absence of ductus venosus and family hystory of XLOS. The genetic prenatal test detected the c(0).1286-1G > T mutation of MID1 gene. Data about prenatal ultrasonographic findings consistent with XLOS are limited to second and third trimester. This is the first case reporting ultrasound detectable midline defects suggestive of XLOS as early as the first trimester of gestation. This case also suggests that when multiple anomalies are detected in a fetus with normal chromosomal structure, the possibility of a monogenic disorder must be considered.

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. Congenital heart anomalies can accompany in this syndrome. To the best of our knowledge, this is the first case of mosaic trisomy 14 with an aortopulmonary window to be described in the literature.

This study, reports for the first time, the neuropsychological profile of a child with Hamamy syndrome-a rare genetic disorder with only five published cases (Buget, Canbolat, Akgul, & Kucukay, 2015). The patient was seen for a neuropsychological evaluation at ages 6 and 7, at the American University of Beirut Medical Center. Procedures included an extended clinical interview with the parent, behavioral observations, formal tests, and a series of parental rating scales. Patient was found to have relatively spared nonverbal intelligence, borderline-impaired language, and clinically impaired verbal reasoning, attention, and motor coordination. Additionally, he showed clinically significant concerns with behavioral regulation, metacognition, attention-deficit, and hyperactivity/impulsivity. The patient was diagnosed with a DSM-V Language Disorder, Speech Sound Disorder, and Attention Deficit/Hyperactivity Disorder, combined presentation, in the context of low-average intelligence. At follow-up, the neuropsychological profile was consistent, albeit improvement was noted following pharmacotherapy. This is the first published report that describes the neuropsychological functions of Hamamy syndrome. We make recommendations for early identification of cognitive strengths and weaknesses, and interventions to address them. Future research should evaluate additional functions such as memory and social/emotional development. (JINS, 2019, 25, 336-342).