Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial ...

We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cogniti...

We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male childre...

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypot...

STUDY OBJECTIVES Rapid eye movement (REM)-induced hypotonia of the major upper airway dilating muscle (genioglossus) potentially contributes to the worsening of obstructive sleep apnea that occurs during this stage. No prior human single motor unit (SMU) study of genioglossus has examined this possibility to our knowledge. We hypothesized that genioglossus SMUs would reduce their activity durin...

SECTION 1 A female infant was delivered via cesarean section at 39 weeks’ gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic fluid indices. Apgar scores were 7 and 8 at 1 and 5 minutes. Shortly after birth, the infant developed respiratory distress and apnea that resolved with repositioning of her neck and trunk. General examination was remarkable fo...

A term male newborn was admitted to the neonatal intensive care unit for respiratory distress and feeding difficulty. His 19-year-old mother was apparently healthy. The baby had generalized hypotonia, weakness, a weak cry, and a tented upper lip (figure). Maternal examination facilitated diagnosis (videos 1 and 2 on the Neurology Web site at www.neurology.org). Genetic testing identified 99 CTG...

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mut...

Hypotonia, ligament laxity and motor alterations are characteristic for patients with Down syndrome (DS). The purpose of this study was the evaluation of typical gait pattern of subjects with Down syndrome and the quantification of their joint stiffness, connected with ligament laxity and hypotonia, as a possible compensation. 98 children with DS (mean age: 11.7 years; range: 6-15 years) and 30...

We describe a two-year-old girl with 22q13 deletion syndrome (MIM # 606232), 46, XX, de l (22) (q13.31). ish del (22) (q13.31) (TUPLE 1+,ARSA-). The patient has hypotonia, normal growth, severe expressive language delay, mild mental retardation, and minor dysmorphic facial features. In addition, she had central diabetes insipidus that was diagnosed at age two days and resolved at age 27 months....