TABLE 2.
Symptoms Encountered in Newborns With LSDs
| System | Manifestations |
|---|---|
| Neurologic | Hypotonia |
| Floppy-infant syndrome | |
| Trismus | |
| Strabismus | |
| Opisthotonus | |
| Spasticity | |
| Seizures | |
| Peripheral neuropathy | |
| Developmental delay | |
| Irritability | |
| Extrapyramidal movement disorder | |
| Hydrocephalus | |
| Respiratory | Congenital lobar emphysema |
| Impaired cough | |
| Recurrent respiratory infections | |
| Hoarseness | |
| Endocrine | Osteopenia |
| Metabolic bone disease | |
| Secondary hyperparathyroidism | |
| Congenital adrenal hyperplasia | |
| Cardiovascular | Cardiomegaly |
| Congenital heart failure | |
| Arrhythmias | |
| Wolff-Parkinson-White syndrome | |
| Cardiomyopathy | |
| Dysmorphology | |
| Head and neck | Microcephaly |
| Enlarged nuchal translucency | |
| Microstomia | |
| Micrognathia/microretrognathia | |
| Long philtrums | |
| Limbs | Bilateral broad thumbs and toes |
| Bilateral club feet | |
| Eversed lips | |
| Flattened nasal bridge | |
| Short nasal columella | |
| Oral | Macroglossia |
| Molar hypoplasia | |
| Hypertrophic gums | |
| Absent nasal septum | |
| Bilateral epicanthal inferior orbital creases | |
| Palpebral edema | |
| Hypertelorism | |
| Facial | Coarse facies |
| Low-set ears | |
| Gastrointestinal | Hepatosplenomegaly |
| Neonatal cholestasis | |
| Bones and joints | Lytic bone lesions |
| Joint contractures | |
| Dysostosis multiplex | |
| Hyperphosphatasemia | |
| Vertebral breaking | |
| Broadening of tubular bones | |
| Punctuate epiphysis | |
| Craniosynostosis | |
| Painful joint swelling | |
| Skin | Congenital ichthyosis |
| Collodion infant | |
| Hypopigmentation | |
| Telangiectasias | |
| Extended Mongolian spots | |
| Ocular | Corneal clouding |
| Megalocornea | |
| Glaucoma | |
| Cherry-red spots | |
| Fundi hypopigmentation | |
| Bilateral cataracts | |
| Hematologic | Anemia |
| Thrombocytopenia | |
| Hydrops fetalis | NIHF |
| Congenital ascites | |
| Recurrent fetal losses |