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Biomedical subjects

Hanan A Hamamy

Publications and source records attributed to Hanan A Hamamy.

8 recordsLinked to original sources
PubMed2007

Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?

We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.

Bone Diseases, Developmental↗
PubMed2005

Cockayne syndrome in 2 siblings.

Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration. We report and describe this syndrome in a Jordanian brother and sister with Cockayne syndrome with first cousin parents. Clinical features included short stature, cachectic senile look, neurological deterioration, photosensitivity, mental retardation, hearing impairment and carious teeth. The phenotype is compatible with a mild variant of type I Cockayne syndrome. They showed an exaggerated response to growth hormone provocation test, with slightly elevated basal insulin-like growth factor 1 levels. The radiological findings of thinning of ribs and slender femora with narrow medullary canals have not previously been reported in this syndrome. We discuss the implications of these findings.

Abnormalities, Multiple↗
PubMed2004

Clinical and inheritance profiles of Kallmann syndrome in Jordan.

BACKGROUND: Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. SUBJECTS: Over a period of five years (1999-2004), the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. RESULTS: The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 - 46 years. Nine boys aged 4-14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. CONCLUSIONS: (1) the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2) Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3) Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

Journal Article↗
PubMed2004

Parental decisions following the prenatal diagnosis of sex chromosome abnormalities.

OBJECTIVE: To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus. METHODS: Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus in the Division of Medical Genetics, University Hospital of Geneva during the time period 1980-2001. RESULTS: Among 61 couples with a prenatal diagnosis of a sex chromosome abnormality (SCA), 44 couples (72.1%) decided to terminate pregnancy. Pregnancy termination rates were 100, 73.9, 70, 50 and 42.9% for Turner syndrome, Klinefelter syndrome, 47,XXX females, 47,XYY males, and mosaic cases, respectively. In all 11 cases with a fetal abnormality seen on ultrasound, pregnancy was terminated. Termination rates were higher among couples with a higher mean number of previous children. Maternal age and year of test did not influence parental decisions. CONCLUSIONS: Parental decision to terminate a pregnancy for a fetus with a SCA varied by type of sex chromosome abnormality, by presence of fetal ultrasound anomalies, and by the mean number of previous children.

Abortion, Induced↗
PubMed2004

Familial monozygotic twinning: report of an extended multi-generation family.

Thirteen sets of monozygotic (MZ) twins from an extended multi-generation family are reported. Zygosity was determined by interviewing families for overall physical similarity and by assessment of facial photographs. A hypothetical gene was traced back five generations to a common grandfather. Familial monozygotic twinning in this pedigree is compatible with autosomal dominant inheritance with reduced penetrance. Other plausible mechanisms of inheritance are discussed.

Family↗
PubMedDate not supplied

Hereditary multiple exostoses with pseudoaneurysm.

A 16-year-old male patient with hereditary multiple exostoses (HME) was found to have a pseudoaneurysm of the left popliteal artery caused by osteochondroma in the lower femur. The diagnosis was confirmed by ultrasound, magnetic resonance imaging and magnetic resonance angiography without the need to perform an angiogram. The osteochondroma was excised and the popliteal artery was repaired with a saphenous graft. Vascular complications are extremely rare in HME, pseudoaneurysm being the most common and mostly located in the popliteal artery. This complication should be considered in young HME patients with a mass at the knee region. The radiological spectrum of investigations allows the diagnosis of this complication with proper and less invasive management procedures for the patient.

Adolescent↗
PubMedDate not supplied

Pituitary enlargement in patients with primary hypothyroidism.

OBJECTIVE: To assesses the frequency and degree of pituitary hyperplasia in patients with primary hypothyroidism, the association of pituitary enlargement with disease severity, and the response to treatment. METHODS: Between April 2002 and August 2004 at the National Center for Diabetes, Endocrinology and Genetics in Amman, Jordan, 53 patients (49 female and 4 male subjects) with primary hypothyroidism and serum thyrotropin (thyroid-stimulating hormone or TSH) levels of > or = 50 microIU/mL were encountered. Initial and follow-up investigations included thyroid function tests, serum prolactin levels, and magnetic resonance imaging (MRI) of the pituitary. Visual field examination was requested for all patients with pituitary enlargement (and adequately completed in 24). RESULTS: Pituitary enlargement on MRI was found in 37 of the 53 patients (70%), with 31 of the 37 patients (84%) having TSH levels of > or = 100 microIU/mL. After thyroxine treatment, 85% of the patients with pituitary enlargement who underwent a follow-up MRI showed a decrease in size of the gland. About half of the patients were referred to our facility with the diagnosis of hypothyroidism; presenting features in the rest of the patients included galactorrhea, menstrual irregularities, learning disability, short stature, precocious puberty, ovarian hyperstimulation syndrome, headaches, visual field defects, and dry ichthyotic skin. CONCLUSION: The association between pituitary gland enlargement and primary hypothyroidism should be kept in mind when pituitary hyperplasia is detected on MRI, before unwarranted and drastic interventions are initiated.

Adolescent↗