Chromosomal analysis using G- and C-banding techniques and fluorescence in situ hybridization (FISH) showed an apparent monocentric isochromosome. [ncbi.nlm.nih.gov]

Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. [ncbi.nlm.nih.gov]

face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction. [ncbi.nlm.nih.gov]

The infant was never decannulated, however, and she died at the age of 9 months of acute respiratory distress syndrome secondary to an upper respiratory infection. [scholars.northwestern.edu]

Examination revealed a pink neonate in respiratory distress (dyspneic). She was febrile with temperature of 38.8 C, not pale, acyanosed, not dehydrated. The anterior and posterior fontanelles were patent and normotensive. [mdcan-uath.org]

The neonate was treated for severe respiratory distress syndrome, with immediate intubation and resuscitation. Vitamin K, fresh frozen plasma, and antibiotics were also administered. [journals.lww.com]

The clinical assessment was aspiration pneumonitis with background cleft lip, cleft palate, and midline abnormalities. Hematologic, blood chemistry, urinalysis parameters, as well as the random blood sugar were within normal limits. [mdcan-uath.org]

Swallowing problems are common in the more severe forms, placing these children at risk for recurrent respiratory problems or chronic lung disease due to aspiration. Poor gastric emptying, gastroesophageal reflux, and constipation are common. [pubs.rsna.org]

There was difficulty with suckling with repeated episodes of coughing/choking while breastfeeding. There are no associated vomiting or diarrhea and no history of seizure since birth. She was delivered at term through spontaneous vertex delivery. [mdcan-uath.org]

There are no associated vomiting or diarrhea and no history of seizure since birth. She was delivered at term through spontaneous vertex delivery. [mdcan-uath.org]

We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis. [ncbi.nlm.nih.gov]

[…] diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia [ncbi.nlm.nih.gov]

Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. [ncbi.nlm.nih.gov]

Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. [ncbi.nlm.nih.gov]

Phenotypically, the fetus had a short neck, triangular face, low-set ears, small and protruded chin, hypotelorism, a single-nostril nose, and ogival palate (Fig. 7). [journals.lww.com]

bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. [ncbi.nlm.nih.gov]

The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood. [ncbi.nlm.nih.gov]

Secretion of inappropriate antidiuretic hormone syndrome (SIADH) is a disorder of fluid-electrolyte balance caused by the inability to suppress the secretion of antidiuretic hormone (ADH) resulting in the development of hyponatremia. [ncbi.nlm.nih.gov]

Blood culture yielded growth of Staphylococcus aureus sensitive to cefuroxime, cefixime, cephalexin, streptomycin, and erythromycin. [mdcan-uath.org]