Limits...
Rhizomelic Chondrodysplasia Punctata

Overbey ANO - MedPix (2011)

View Article: MedPix Image - MedPix Case

Affiliation: Naval Medical Center San Diego

ABSTRACT

Diagnosis: Rhizomelic Chondrodysplasia Punctata

History: Term male infant in respiratory distress born to a 37 year old G1 mother at 41+1 weeks of gestational age. Transferred to the NICU following routine resuscitation. Prior fetal ultrasound demonstrated short humeri and femurs. Fetal echocardiogram demonstrated Tetralogy of Fallot. The mother was noted to be Group B Streptococcus positive and was treated with adequate antibiotics. Fetal genetic testing was negative and chromosomes were noted to be normal.

Findings: A single portable frontal view of the infant demonstrates multiple anomalies, including fragmented epiphyses, shortened humeri and femurs, a small rib cage, and vertebral calcifications. The cardiothymic silhouette fills most of the chest, and there is a nonobstructed bowel gas pattern.

Ddx: • Rhizomelia - Skeletal dysplasia: Achondroplasia, Atelosteogenesis, Chondrodysplasia punctata rhizomelic type, Diastrophic dysplasia, Thanatophoric dysplasia - Congenital short femur • Punctate Epiphyses - Skeletal dysplasia: Chondrodysplasia punctata, Conradi-Hunermann type, Rhizomelic type, Brachytelephalangic type, Mesomelic metacarpal type, Sheffield type - Other genetic disorders: Zellweger syndrome, Trisomy 21/18, Smith-Lemli-Opitz syndrome, DeLange syndrome, GM1 gangliosidosis, Child syndrome - Vitamin K disorders: Warfarin embryopathy, Vitamin K epoxide reductase deficiency - Teratogens: Fetal alcohol effects, Hydantoin exposure, Penacetin intoxication, Maternal febrile illness

Dxhow: Biochemical testing of peroxisome function confirms Rhizomelic Chondrodysplasia Punctata, Type 1.

Exam: Physical Exam - Weight 3495 g (40%), Length 44 cm (<3%), Head circumference 34 cm (10%) - Vitals: Temp 37, HR 149, RR 33, BP 70/45, SaO2 67 on RA - APGARs: 6/7 - HEENT: Red reflexes absent bilaterally with white appearing lenses, low-set ears with thickened lobes, wide philtrum - Lungs: Diminished breath sounds bilaterally - Heart: III/VI holosystolic murmur heard best at left upper/lower sterna border - Abdomen: Normal - Anus: Patent - Genitalia: Short penile structure with partial exposure of penile head with thickened scrotal ruggae - Extremities: Shortened bilateral humeri and femurs with limited movement - Spine: Palpable increased ossification along spine - Neuro: Decreased tone and active motion, absent Moro reflex - Skin: Cyanotic - The remainder of the physical exam was unremarkable. Labs - Blood gas (360 minutes of life on 3L NC): pH 7.33, pCO2 47, pO2 35, BE -1 - Na 139, K+ 3.7, ionized Ca 1.31, Hct 51, glucose 60 gm/dl

No MeSH data available.


© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=MPX2191&req=5


Rhizomelic Chondrodysplasia Punctata

Overbey ANO - MedPix (2011)

© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX2191&req=5

View Article: MedPix Image - MedPix Case

Affiliation: Naval Medical Center San Diego

ABSTRACT

Diagnosis: Rhizomelic Chondrodysplasia Punctata

History: Term male infant in respiratory distress born to a 37 year old G1 mother at 41+1 weeks of gestational age. Transferred to the NICU following routine resuscitation. Prior fetal ultrasound demonstrated short humeri and femurs. Fetal echocardiogram demonstrated Tetralogy of Fallot. The mother was noted to be Group B Streptococcus positive and was treated with adequate antibiotics. Fetal genetic testing was negative and chromosomes were noted to be normal.

Findings: A single portable frontal view of the infant demonstrates multiple anomalies, including fragmented epiphyses, shortened humeri and femurs, a small rib cage, and vertebral calcifications. The cardiothymic silhouette fills most of the chest, and there is a nonobstructed bowel gas pattern.

Ddx: • Rhizomelia - Skeletal dysplasia: Achondroplasia, Atelosteogenesis, Chondrodysplasia punctata rhizomelic type, Diastrophic dysplasia, Thanatophoric dysplasia - Congenital short femur • Punctate Epiphyses - Skeletal dysplasia: Chondrodysplasia punctata, Conradi-Hunermann type, Rhizomelic type, Brachytelephalangic type, Mesomelic metacarpal type, Sheffield type - Other genetic disorders: Zellweger syndrome, Trisomy 21/18, Smith-Lemli-Opitz syndrome, DeLange syndrome, GM1 gangliosidosis, Child syndrome - Vitamin K disorders: Warfarin embryopathy, Vitamin K epoxide reductase deficiency - Teratogens: Fetal alcohol effects, Hydantoin exposure, Penacetin intoxication, Maternal febrile illness

Dxhow: Biochemical testing of peroxisome function confirms Rhizomelic Chondrodysplasia Punctata, Type 1.

Exam: Physical Exam - Weight 3495 g (40%), Length 44 cm (<3%), Head circumference 34 cm (10%) - Vitals: Temp 37, HR 149, RR 33, BP 70/45, SaO2 67 on RA - APGARs: 6/7 - HEENT: Red reflexes absent bilaterally with white appearing lenses, low-set ears with thickened lobes, wide philtrum - Lungs: Diminished breath sounds bilaterally - Heart: III/VI holosystolic murmur heard best at left upper/lower sterna border - Abdomen: Normal - Anus: Patent - Genitalia: Short penile structure with partial exposure of penile head with thickened scrotal ruggae - Extremities: Shortened bilateral humeri and femurs with limited movement - Spine: Palpable increased ossification along spine - Neuro: Decreased tone and active motion, absent Moro reflex - Skin: Cyanotic - The remainder of the physical exam was unremarkable. Labs - Blood gas (360 minutes of life on 3L NC): pH 7.33, pCO2 47, pO2 35, BE -1 - Na 139, K+ 3.7, ionized Ca 1.31, Hct 51, glucose 60 gm/dl

No MeSH data available.